Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP6807.RAf8TplYIKEOR3BbA8zsItmeGPrnt5JGtuGaczDiyhpoQ130_assertion description "[Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6807.RAf8TplYIKEOR3BbA8zsItmeGPrnt5JGtuGaczDiyhpoQ130_provenance.
• NP6810.RAZbFKlYQDoJaFGK2UV3fwbvONreG5CDJsxW5lIgSfFFU130_assertion description "[However, a constitutive activity in terms of basal cAMP production was detected in the Cys310 mutant, compared with the wild-type TSH-R. Our data suggest that such a Cys310 TSH-R mutant may determine both the TSH resistance and the clinical euthyroidism detected in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6810.RAZbFKlYQDoJaFGK2UV3fwbvONreG5CDJsxW5lIgSfFFU130_provenance.
• NP6811.RAZgsh6xyhjfz4J9B_qfCU8YIRlLmGTJjC_FSqlC3MxSM130_assertion description "[Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6811.RAZgsh6xyhjfz4J9B_qfCU8YIRlLmGTJjC_FSqlC3MxSM130_provenance.
• NP6817.RAbq9UjG4gpj4GKwSWC5P37J8oPfOH9ZfTJgF8sPnbHGg130_assertion description "[Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6817.RAbq9UjG4gpj4GKwSWC5P37J8oPfOH9ZfTJgF8sPnbHGg130_provenance.
• NP6825.RAdCqO_zeFws4JsGz7PNnXbB84LeTHIXtaohM5MMHUA7k130_assertion description "[The kinase domain of titin controls muscle gene expression and protein turnover.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6825.RAdCqO_zeFws4JsGz7PNnXbB84LeTHIXtaohM5MMHUA7k130_provenance.
• NP6826.RAf1dQ4ctW1va_9NJoqNxktJzH_VZWf718doQKZfqr-Ew130_assertion description "[Titin mutations as the molecular basis for dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6826.RAf1dQ4ctW1va_9NJoqNxktJzH_VZWf718doQKZfqr-Ew130_provenance.
• NP6829.RAeiqDRbc-5VrmyOfjWEVS432al1pBohMpJD_5qGfqm00130_assertion description "[Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6829.RAeiqDRbc-5VrmyOfjWEVS432al1pBohMpJD_5qGfqm00130_provenance.
• NP6835.RAW7qn9Ovum6wBMeHMOPrsmfM-bQvSr6L_jj0JwfziiBk130_assertion description "[Transthyretin amyloidosis, also known as familial amyloidotic polyneuropathy, is an autosomal dominant disorder that results from a mutation in the gene encoding plasma transthyretin (TTR).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6835.RAW7qn9Ovum6wBMeHMOPrsmfM-bQvSr6L_jj0JwfziiBk130_provenance.
• NP6838.RATmcb5Q6KDR5zBpUlkBGLp92--BCEcibWiM0Sx1JkGD8130_assertion description "[A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6838.RATmcb5Q6KDR5zBpUlkBGLp92--BCEcibWiM0Sx1JkGD8130_provenance.
• NP6840.RAfUdVuBA4_4ZG6LGXJ4xRBobA_JvPJLQQcEXpxk-rRmM130_assertion description "[Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6840.RAfUdVuBA4_4ZG6LGXJ4xRBobA_JvPJLQQcEXpxk-rRmM130_provenance.
• NP6844.RAbH7Owg0fUR7vrlq9xTkGgmxTU6No2g2Q36_sqFkS-2M130_assertion description "[Genetic microheterogeneity of human transthyretin detected by IEF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6844.RAbH7Owg0fUR7vrlq9xTkGgmxTU6No2g2Q36_sqFkS-2M130_provenance.
• NP6849.RAVUHDa5XesN9h_j5fYdzaI1R6KIJ86hPGWETxcbEvl2I130_assertion description "[Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6849.RAVUHDa5XesN9h_j5fYdzaI1R6KIJ86hPGWETxcbEvl2I130_provenance.
• NP6852.RAfiuCMbiO1BqzAvBLKoRj4UlFw4YDR_mIEYalRBZiqwA130_assertion description "[Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6852.RAfiuCMbiO1BqzAvBLKoRj4UlFw4YDR_mIEYalRBZiqwA130_provenance.
• NP6856.RAZFyQiMqgbw2SO9ZZbDtUFZXezMNM9qO6q7AEa8iAnbI130_assertion description "[A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6856.RAZFyQiMqgbw2SO9ZZbDtUFZXezMNM9qO6q7AEa8iAnbI130_provenance.
• NP6860.RAXDqdVUSos87kp7lMPkKOkfL1iI2p3gjP6PUV9_WQYHc130_assertion description "[Mutations of the TWIST gene in the Saethre-Chotzen syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6860.RAXDqdVUSos87kp7lMPkKOkfL1iI2p3gjP6PUV9_WQYHc130_provenance.
• NP6861.RAQQ_XGBDD9_apv-4p-pedi6p_tqnN1XdsgGP3YUm0orU130_assertion description "[Another TWIST on Baller-Gerold syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6861.RAQQ_XGBDD9_apv-4p-pedi6p_tqnN1XdsgGP3YUm0orU130_provenance.
• NP6864.RAQKxskGFfzBi9VkdJCPJ65m47I9B61mwxMj32yxQloMk130_assertion description "[Phenotypic variability in a Spanish family with MNGIE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6864.RAQKxskGFfzBi9VkdJCPJ65m47I9B61mwxMj32yxQloMk130_provenance.
• NP6866.RAS7WLTjrm-RJSogOly5lLQzn_PvhQ7HwUUz-AFwBw2kc130_assertion description "[A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6866.RAS7WLTjrm-RJSogOly5lLQzn_PvhQ7HwUUz-AFwBw2kc130_provenance.
• NP6867.RAXEjh_Sw7kbu-LBahpylkYhe9jfAeq3PHQSeibi10WaU130_assertion description "[Mutation analysis of the tyrosinase gene in oculocutaneous albinism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6867.RAXEjh_Sw7kbu-LBahpylkYhe9jfAeq3PHQSeibi10WaU130_provenance.
• NP6871.RAdLY0tyPPep0XoLBLGbR0WnBhRTlyVLMEhh9t21tx48g130_assertion description "[Initiation codon mutation of the tyrosinase gene as a cause of human albinism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6871.RAdLY0tyPPep0XoLBLGbR0WnBhRTlyVLMEhh9t21tx48g130_provenance.
• NP6872.RAemoOspDbyumf-7zbvDWx7Zzry30Db-aW1XQBYQTURAQ130_assertion description "[Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6872.RAemoOspDbyumf-7zbvDWx7Zzry30Db-aW1XQBYQTURAQ130_provenance.
• NP6876.RAaFKySvrfq7QYPfCDZN9fSscaZd5uAaXJH_cnolAeprE130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6876.RAaFKySvrfq7QYPfCDZN9fSscaZd5uAaXJH_cnolAeprE130_provenance.
• NP6878.RAX2PemSvNiIB2hRfdy9vKRvUTBKj8XdX2RBwwsb0Rh9Y130_assertion description "[Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6878.RAX2PemSvNiIB2hRfdy9vKRvUTBKj8XdX2RBwwsb0Rh9Y130_provenance.
• NP6887.RASvCoennkE6EpdJVxsWrcMKB-ywcK1cenUBkfUBFC2C0130_assertion description "[A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6887.RASvCoennkE6EpdJVxsWrcMKB-ywcK1cenUBkfUBFC2C0130_provenance.
• NP6890.RAYjDc_2GBPeiBHAKfyZGyJK0gr0hXnK8xi6egwdJclR4130_assertion description "[Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6890.RAYjDc_2GBPeiBHAKfyZGyJK0gr0hXnK8xi6egwdJclR4130_provenance.
• NP6891.RAesUoYiGolFsQlbU2cFv9LN6DTxifLkmLdzV4w5xZU7g130_assertion description "[UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6891.RAesUoYiGolFsQlbU2cFv9LN6DTxifLkmLdzV4w5xZU7g130_provenance.
• NP6894.RAZ50_5UwOuUtsVYQf8GqF4QU3FysTKby3n-2wPpL6ZaU130_assertion description "[Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6894.RAZ50_5UwOuUtsVYQf8GqF4QU3FysTKby3n-2wPpL6ZaU130_provenance.
• NP6899.RAS_EQ5WTEeDYq0OldMAGRQ1kr-1TeKB6OqJqGx6lft6Y130_assertion description "[Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6899.RAS_EQ5WTEeDYq0OldMAGRQ1kr-1TeKB6OqJqGx6lft6Y130_provenance.
• NP6900.RAezO20UM_aOw0wKcBCF1sktajxmwmBAq1n3Wx8771T14130_assertion description "[Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6900.RAezO20UM_aOw0wKcBCF1sktajxmwmBAq1n3Wx8771T14130_provenance.
• NP6902.RAQFEx6oHYrOa80ZJ2fNyu2J8NV7RRegsSt80UYCd7zTo130_assertion description "[Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6902.RAQFEx6oHYrOa80ZJ2fNyu2J8NV7RRegsSt80UYCd7zTo130_provenance.
• NP6917.RAQNqmeO9fip0b3y5fPD3tOJonX-1QVsu5W9LFutBGQjA130_assertion description "[Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6917.RAQNqmeO9fip0b3y5fPD3tOJonX-1QVsu5W9LFutBGQjA130_provenance.
• NP6921.RAcHixQ6oHjR2CSQtq549p4q5caUBvWw234lRIixreUSM130_assertion description "[The clinical characteristics were similar to those of other patients suffering from uromodulin mutations and to those of patients suffering from medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6921.RAcHixQ6oHjR2CSQtq549p4q5caUBvWw234lRIixreUSM130_provenance.
• NP6925.RAUy-5LrYQ8iusm4UZy4UMfs_OHIyK70-Z63FLk2tkw58130_assertion description "[Our results demonstrate that the N-carbamyl-beta-amino aciduria in these patients is due to a deficiency of beta-ureidopropionase, which is caused by mutations in the UPB1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6925.RAUy-5LrYQ8iusm4UZy4UMfs_OHIyK70-Z63FLk2tkw58130_provenance.
• NP6926.RARy6hXec4XnL30L3HbyEQT2lcvXrKlDqHsEVCSw3BC7I130_assertion description "[Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6926.RARy6hXec4XnL30L3HbyEQT2lcvXrKlDqHsEVCSw3BC7I130_provenance.
• NP6929.RAaFjLp8NIhMJ2H-fMgfhF61t-8L_KFGX0J-SlXQiLmDs130_assertion description "[Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6929.RAaFjLp8NIhMJ2H-fMgfhF61t-8L_KFGX0J-SlXQiLmDs130_provenance.
• NP6933.RAea_fDBg3eUtOy-sJFFsnrYPR0oLTmVBzzSUeIlkg2Ns130_assertion description "[Functional consequences of 12 mutations-10 missense, 1 splicing defect, and 1 frameshift mutation-were characterized in the uroporphyrinogen decarboxylase (URO-D) gene found in Utah pedigrees with familial porphyria cutanea tarda (F-PCT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6933.RAea_fDBg3eUtOy-sJFFsnrYPR0oLTmVBzzSUeIlkg2Ns130_provenance.
• NP6938.RAZ9YXiNKLksM9zMTXGrN_EIglwe7gh_FFaNAniGFIBro130_assertion description "[All mutations were observed in conjunction with decreased erythrocyte UROD and clinical familial porphyria cutanea tarda (fPCT), (four families) or hepatoerythropoietic porphyria (HEP), (one family).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6938.RAZ9YXiNKLksM9zMTXGrN_EIglwe7gh_FFaNAniGFIBro130_provenance.
• NP6952.RASEJH1IqScfprwDCIcws-8Xt7yBbSMp3YEWyYJTNeRRg130_assertion description "[Next-generation genetic testing for retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6952.RASEJH1IqScfprwDCIcws-8Xt7yBbSMp3YEWyYJTNeRRg130_provenance.
• NP6956.RAer8wEfeLvLkw3DJkd-stSyw-K0UqFDAsRHT4oLhLhDE130_assertion description "[Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6956.RAer8wEfeLvLkw3DJkd-stSyw-K0UqFDAsRHT4oLhLhDE130_provenance.
• NP6957.RAZTiRu2L17C1xqr4hG53WqJbwuDWYmRMjI_06tl0F5Uo130_assertion description "[Mutational spectrum in Usher syndrome type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6957.RAZTiRu2L17C1xqr4hG53WqJbwuDWYmRMjI_06tl0F5Uo130_provenance.
• NP6963.RATxBzXTXPJIOcv4me_eIWkjs4-XV5lls_c1-e-Xnz5lI130_assertion description "[Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6963.RATxBzXTXPJIOcv4me_eIWkjs4-XV5lls_c1-e-Xnz5lI130_provenance.
• NP6964.RAWuBm_kkCz3l5KLFyRUDFjsNEKA_XyaX3W_nER4GWTbQ130_assertion description "[Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6964.RAWuBm_kkCz3l5KLFyRUDFjsNEKA_XyaX3W_nER4GWTbQ130_provenance.
• NP6968.RAW69e_rZwRfgmgpkxE4axebFzKei3qSpAkb_UYeMnFuQ130_assertion description "[Novel mutations in VANGL1 in neural tube defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6968.RAW69e_rZwRfgmgpkxE4axebFzKei3qSpAkb_UYeMnFuQ130_provenance.
• NP6969.RAdkOCPdHy7F9q3oVYGPj85kxbJtXPDnufcyW4hm_fAR4130_assertion description "[VANGL2 mutations in human cranial neural-tube defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6969.RAdkOCPdHy7F9q3oVYGPj85kxbJtXPDnufcyW4hm_fAR4130_provenance.
• NP6971.RAZ-YmBWT_E0khORi5KtVdE0sN-k8qeNSsN0NA4iH415U130_assertion description "[Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6971.RAZ-YmBWT_E0khORi5KtVdE0sN-k8qeNSsN0NA4iH415U130_provenance.
• NP6985.RAR9VPic9gBpdA_qwkRfixhHDooSJXuNHlIC6sSK-qZTg130_assertion description "[In three Japanese patients with vitamin D-dependent rickets type II whose fibroblasts displayed normal cytosol binding and impaired nuclear uptake of 1,25-dihydroxyvitamin D3, western, Southern, and northern analyses failed to disclose any abnormalities in vitamin D3 receptor protein and its gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6985.RAR9VPic9gBpdA_qwkRfixhHDooSJXuNHlIC6sSK-qZTg130_provenance.
• NP6988.RASd8pWcKRhfZWdcKOpSZa2UXXuz8gjaGCa-ugnvmQVLY130_assertion description "[Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6988.RASd8pWcKRhfZWdcKOpSZa2UXXuz8gjaGCa-ugnvmQVLY130_provenance.
• NP6989.RAWV85_s42IxdqTHd-guqXEEeedGEGdRGYhE2zZBb2gZg130_assertion description "[Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6989.RAWV85_s42IxdqTHd-guqXEEeedGEGdRGYhE2zZBb2gZg130_provenance.
• NP6991.RAW7tTddWQza5iR-KYSaVoPhQW_9OfLlNNBMQCif-Tmw4130_assertion description "[The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6991.RAW7tTddWQza5iR-KYSaVoPhQW_9OfLlNNBMQCif-Tmw4130_provenance.
• NP6992.RARle9dKygdzRXISs63umVQxHRQN33gAksinoYM5D7E50130_assertion description "[Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6992.RARle9dKygdzRXISs63umVQxHRQN33gAksinoYM5D7E50130_provenance.
• NP7010.RATg2qMu6MGsUFRpWBKceJd6D-1BNP3tywVHnkNLP0oas130_assertion description "[Overexpression of wild-type VKORC1, but not VKORC1 carrying the VKCFD2 mutation, leads to a marked increase in VKOR activity, which is sensitive to warfarin inhibition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7010.RATg2qMu6MGsUFRpWBKceJd6D-1BNP3tywVHnkNLP0oas130_provenance.
• NP7011.RAdyZ-Ljt5mKSkJqK37EnvcwKTsr1ESVPohSL35Lu9hEA130_assertion description "[A conserved sorting-associated protein is mutant in chorea-acanthocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7011.RAdyZ-Ljt5mKSkJqK37EnvcwKTsr1ESVPohSL35Lu9hEA130_provenance.
• NP7023.RAUYhbCZPku-A9SuKG_E2_QlMzaqA8XdYk27NmrOUOafk130_assertion description "[VSX1: a gene for posterior polymorphous dystrophy and keratoconus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7023.RAUYhbCZPku-A9SuKG_E2_QlMzaqA8XdYk27NmrOUOafk130_provenance.
• NP7024.RAdLIRyjKN_iG7cjxAsz8EWMCkQlQEX-xuKsLLwGqNt5w130_assertion description "[A novel VSX1 mutation identified in an individual with keratoconus in India.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7024.RAdLIRyjKN_iG7cjxAsz8EWMCkQlQEX-xuKsLLwGqNt5w130_provenance.
• NP7026.RAUpjvTk0V9NfMbgL3cpGPvZpP87Ozakm4nOVU8iwvHqI130_assertion description "[Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7026.RAUpjvTk0V9NfMbgL3cpGPvZpP87Ozakm4nOVU8iwvHqI130_provenance.
• NP7030.RAdzGvVfCV3ARN3LxZE7lLfQCwyzy4zQcjIO8D93_TH4Q130_assertion description "[Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7030.RAdzGvVfCV3ARN3LxZE7lLfQCwyzy4zQcjIO8D93_TH4Q130_provenance.
• NP7031.RAUPc-WeOSDs0VB8j5a-DT5tOli25cwJu3plgjQEJGbqY130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7031.RAUPc-WeOSDs0VB8j5a-DT5tOli25cwJu3plgjQEJGbqY130_provenance.
• NP7038.RAXUmDA4rd1RNKAjoYiMYCWHl8rkVewP_DXHxpCHCoymY130_assertion description "[A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7038.RAXUmDA4rd1RNKAjoYiMYCWHl8rkVewP_DXHxpCHCoymY130_provenance.
• NP7040.RATMSC_3xNa-61s9-0h8fbxJfvCjSDYMNACNF_tggLzpk130_assertion description "[Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7040.RATMSC_3xNa-61s9-0h8fbxJfvCjSDYMNACNF_tggLzpk130_provenance.
• NP7043.RAZe0NnRgWcwh2mPfDojgVt66RHRi8ALT3MOEqWGmHwIg130_assertion description "[A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7043.RAZe0NnRgWcwh2mPfDojgVt66RHRi8ALT3MOEqWGmHwIg130_provenance.
• NP7044.RAYwTWpkMisNUrxG7JSTCJkBwOD6nECmoEaAGl60dhmJI130_assertion description "[Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7044.RAYwTWpkMisNUrxG7JSTCJkBwOD6nECmoEaAGl60dhmJI130_provenance.
• NP7045.RAYmyPgtcQDgEJm4fcHiu4bJedkTYxP7XKKE3N3el5ZWk130_assertion description "[WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7045.RAYmyPgtcQDgEJm4fcHiu4bJedkTYxP7XKKE3N3el5ZWk130_provenance.
• NP7046.RAdA1YH5Qf8ce2zBKCUQ1VLXPyOLuTk9eKoDtNjSHiztI130_assertion description "[Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7046.RAdA1YH5Qf8ce2zBKCUQ1VLXPyOLuTk9eKoDtNjSHiztI130_provenance.
• NP7055.RATwo2jo8le5c0E6TPTuUA7vagIIp1EBfj9r4B2PDX3U8130_assertion description "[Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections, and caused by mutations in the WAS protein (WASP) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7055.RATwo2jo8le5c0E6TPTuUA7vagIIp1EBfj9r4B2PDX3U8130_provenance.
• NP7059.RAZyrXOCcjyiAm5aVz4nLEXavuUePwa21Y2CdWFKhcDwE130_assertion description "[Wiskott-Aldrich syndrome (WAS), is an X-linked immunodeficiency disease caused by mutations of the WAS protein (WASP) gene, characterized by thrombocytopenia, eczema and recurrent infections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7059.RAZyrXOCcjyiAm5aVz4nLEXavuUePwa21Y2CdWFKhcDwE130_provenance.
• NP7062.RAQThsfHQSrNwiI-6N2Qr2sGzBwwUcB0q-V4alJdhROGM130_assertion description "[Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7062.RAQThsfHQSrNwiI-6N2Qr2sGzBwwUcB0q-V4alJdhROGM130_provenance.
• NP7063.RAUdHSsPV9u5vdxjdO8PRMITXmtU-pK3eOWvuNJ2hz7P4130_assertion description "[Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7063.RAUdHSsPV9u5vdxjdO8PRMITXmtU-pK3eOWvuNJ2hz7P4130_provenance.
• NP7065.RATF535Z7vUEG8816xUJuQsTsRGZ7iBP9gFcyaw8zDZZo130_assertion description "[Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7065.RATF535Z7vUEG8816xUJuQsTsRGZ7iBP9gFcyaw8zDZZo130_provenance.
• NP7066.RAcq6clB3vtCs8-1wdFbWPuT5XaSfNGyuLMZGCGnAHJvk130_assertion description "[Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7066.RAcq6clB3vtCs8-1wdFbWPuT5XaSfNGyuLMZGCGnAHJvk130_provenance.
• NP7067.RAbemooipCyCx_P3wYyM1U8HgNfj0Ufyf4kzIk9EbBPDg130_assertion description "[Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7067.RAbemooipCyCx_P3wYyM1U8HgNfj0Ufyf4kzIk9EbBPDg130_provenance.
• NP7069.RASEnNjOmiWAdSQhUeyTEWoUpG1aXNQzMAnavmes5TsMM130_assertion description "[Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7069.RASEnNjOmiWAdSQhUeyTEWoUpG1aXNQzMAnavmes5TsMM130_provenance.
• NP7072.RAcpiOxiKUCnmHBGsmpqMAalJ1_cKNLMZPl-QupD247NE130_assertion description "[Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7072.RAcpiOxiKUCnmHBGsmpqMAalJ1_cKNLMZPl-QupD247NE130_provenance.
• NP7074.RAQaxLnQRywGVUT0ckocEHrWEwU6qWhEzt6cFuuvRDsCE130_assertion description "[Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7074.RAQaxLnQRywGVUT0ckocEHrWEwU6qWhEzt6cFuuvRDsCE130_provenance.
• NP7082.RAac_9ktuUa7fxIJRglTyraDoEyevkFJjloKEPkb9fgto130_assertion description "[Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7082.RAac_9ktuUa7fxIJRglTyraDoEyevkFJjloKEPkb9fgto130_provenance.
• NP7083.RAfzFsPCZ7YM84b00Z6oD948i2W38783-fZuiJ8COB5Bo130_assertion description "[An LFSNHL locus has recently been assigned to chromosome 4p16, and mutations in WFS1, the causative gene for Wolfram syndrome, have been found to cause LFSNHL in families with DFNA6, DFNA14, or DFNA38.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7083.RAfzFsPCZ7YM84b00Z6oD948i2W38783-fZuiJ8COB5Bo130_provenance.
• NP7108.RAVmhu3iH4DXXE3CAzbuCk2STKHqe_GrGkSaBOqI7p9OA130_assertion description "[The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 of these have not previously been published.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7108.RAVmhu3iH4DXXE3CAzbuCk2STKHqe_GrGkSaBOqI7p9OA130_provenance.
• NP7123.RAZnN89GXfbrnvRtqf-N7FmlO6NJuDxuZPdVAz9HmQ-UE130_assertion description "[WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7123.RAZnN89GXfbrnvRtqf-N7FmlO6NJuDxuZPdVAz9HmQ-UE130_provenance.
• NP7130.RAYQSGiHK9j98q6YTUFI-v-vkXyul34j_dTigqxhhG-t8130_assertion description "[Point mutations causing the McLeod phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7130.RAYQSGiHK9j98q6YTUFI-v-vkXyul34j_dTigqxhhG-t8130_provenance.
• NP7137.RAaRRZvgQcIoVF1CamNkzdxI2jmD3KjuahCHUQxGbh0pk130_assertion description "[We have now extended this analysis by investigating the genomic and coding sequence of the XPC gene, the level of expression of the XPC transcript and the status of the XPC protein in 12 unrelated patients, including all of the 8 Italian XP-C cases identified thus far and in 13 of their parents.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7137.RAaRRZvgQcIoVF1CamNkzdxI2jmD3KjuahCHUQxGbh0pk130_provenance.
• NP7144.RAcLW7VA6ay31GLT0rlugcB078zFqKjyxOI0IH1obBB3A130_assertion description "[Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7144.RAcLW7VA6ay31GLT0rlugcB078zFqKjyxOI0IH1obBB3A130_provenance.
• NP7149.RATFFIbHy5ky7a0JkgvCpHXNp5ePlj0RusR4o_ZUQNUgE130_assertion description "[Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7149.RATFFIbHy5ky7a0JkgvCpHXNp5ePlj0RusR4o_ZUQNUgE130_provenance.
• NP7152.RAUoH-1356W2RrA4ybIAGN3hF9MhnNoDZmhrnOA98e2NU130_assertion description "[Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7152.RAUoH-1356W2RrA4ybIAGN3hF9MhnNoDZmhrnOA98e2NU130_provenance.
• NP7155.RAYNxNpIaJ1eLhHQLmKNxwWu4ykdw6KdUSOHApxaOnr8E130_assertion description "[In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7155.RAYNxNpIaJ1eLhHQLmKNxwWu4ykdw6KdUSOHApxaOnr8E130_provenance.
• NP7157.RAXj9jOOAMSt4xIbj3lWfPhIvzgB34iELO_3mC29X8nuw130_assertion description "[Characterization of the interactions of human ZIC3 mutants with GLI3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7157.RAXj9jOOAMSt4xIbj3lWfPhIvzgB34iELO_3mC29X8nuw130_provenance.
• NP7159.RAT6p-MoBfbD1t_NU4_5Cm0eq8ZQZi7bhZW3C6fVl2EEo130_assertion description "[Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7159.RAT6p-MoBfbD1t_NU4_5Cm0eq8ZQZi7bhZW3C6fVl2EEo130_provenance.
• NP7164.RAeLpYwCQVFa3cJca5cXelQjdCjtVWR_GR7-qkje8ZRzM130_assertion description "[These observations suggest focal segmental glomerulosclerosis as a phenotypic manifestation in patients with ZMPSTE24 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7164.RAeLpYwCQVFa3cJca5cXelQjdCjtVWR_GR7-qkje8ZRzM130_provenance.
• NP7166.RAQwZhN3-TXSs__BBoRpX12UlX0gt0edl9C9rorsX-Pw8130_assertion description "[A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7166.RAQwZhN3-TXSs__BBoRpX12UlX0gt0edl9C9rorsX-Pw8130_provenance.
• NP7173.RAWIIOE4DJBUrk60CP8tmrgIbTy7yyusSlnNCM_MqINr8130_assertion description "[Alpha-2 macroglobulin is genetically associated with Alzheimer disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7173.RAWIIOE4DJBUrk60CP8tmrgIbTy7yyusSlnNCM_MqINr8130_provenance.
• NP7176.RAaBj5RC4vbJNdIkc1C56Bpr7MR4X6GWY99koAR-Z0US8130_assertion description "[Global gene expression analysis of rat colon cancers induced by a food-borne carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7176.RAaBj5RC4vbJNdIkc1C56Bpr7MR4X6GWY99koAR-Z0US8130_provenance.
• NP7177.RAaUAM33M_BTOLdE5msfz7N-bgnT-gYurNppYwZmjbpuo130_assertion description "[Detection of an alteration of the alpha 2-macroglobulin gene in a patient with chronic lung disease and serum alpha 2-macroglobulin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7177.RAaUAM33M_BTOLdE5msfz7N-bgnT-gYurNppYwZmjbpuo130_provenance.
• NP7179.RAaC5p4nZGUMstdZGrLjhXi84oSvMnAyqMoacrNPjbLjU130_assertion description "[Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7179.RAaC5p4nZGUMstdZGrLjhXi84oSvMnAyqMoacrNPjbLjU130_provenance.
• NP7180.RAR_EzG-Mfwdv-EzOHUEpl-lBNnUP_L4-ygEUuN_cZ8gY130_assertion description "[Plasma proteinase inhibitor activity and hemostasis tests in children with nephrotic syndrome. Effect of prednisone alone and prednisone plus epsilon-aminocaproic acid treatment regimens: a preliminary report.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7180.RAR_EzG-Mfwdv-EzOHUEpl-lBNnUP_L4-ygEUuN_cZ8gY130_provenance.
• NP7184.RAW2_1WPlo-LyROd-5zQad6unIwpQam6zufsei_A-3hBw130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7184.RAW2_1WPlo-LyROd-5zQad6unIwpQam6zufsei_A-3hBw130_provenance.
• NP7186.RAbyuU_DRYpj9rVGUsPcMluWWJDmjYSyOXTfBvYq_dxqQ130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7186.RAbyuU_DRYpj9rVGUsPcMluWWJDmjYSyOXTfBvYq_dxqQ130_provenance.
• NP7189.RATJWs0eGHo1CXhZ8xNCpEXDFGuhWlkZGTs7PlkQj7HbM130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7189.RATJWs0eGHo1CXhZ8xNCpEXDFGuhWlkZGTs7PlkQj7HbM130_provenance.
• NP7191.RAQB3NvNs0h4qR1jHqB69i22VtsOo4Rokhy14uVlgpwGI130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7191.RAQB3NvNs0h4qR1jHqB69i22VtsOo4Rokhy14uVlgpwGI130_provenance.
• NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_assertion description "[Compared to the other defects of GABA degradation, succinic semialdehyde dehydrogenase (SSADH, EC 1.2.1.24) deficiency with > 150 patients (McKusick 271980) and pyridoxine-dependent seizures with > 100 patients ('putative' glutamic acid decarboxylase (GAD, EC 4.1.1.15) deficiency; McKusick 266100), GABA-T deficiency is very rare.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7195.RAVxQk4_U3VhyfsTpGY1ckHoKAPt3Wg7avUK6Yk-ERIGA130_provenance.
• NP7196.RATwLgw8g3SoF7UU_o_rpr2G9eihszl4RTkwfAJM7TNoM130_assertion description "[4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7196.RATwLgw8g3SoF7UU_o_rpr2G9eihszl4RTkwfAJM7TNoM130_provenance.
• NP7197.RAWDJabHiYabXSiAiqaFOBO6l4A8g0g2nleAhByDHu9K0130_assertion description "[4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7197.RAWDJabHiYabXSiAiqaFOBO6l4A8g0g2nleAhByDHu9K0130_provenance.
• NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_assertion description "[Compared to the other defects of GABA degradation, succinic semialdehyde dehydrogenase (SSADH, EC 1.2.1.24) deficiency with > 150 patients (McKusick 271980) and pyridoxine-dependent seizures with > 100 patients ('putative' glutamic acid decarboxylase (GAD, EC 4.1.1.15) deficiency; McKusick 266100), GABA-T deficiency is very rare.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7199.RAQoeRXFXNssdgYFxjqlDkWeVtxA8GKH7I1LQbrf42Lkw130_provenance.

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