Nanopublications LDF server

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

• NP6504.RA98kIQBVYo6zRcwu-1MWdn3ymgjJ3bVCQzREhxeJAr1g130_assertion description "[Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6504.RA98kIQBVYo6zRcwu-1MWdn3ymgjJ3bVCQzREhxeJAr1g130_provenance.
• NP6505.RA1KabSNkRC0AGxYqvzZ2yu_vUbcncyzZXbovHc5abJqc130_assertion description "[Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6505.RA1KabSNkRC0AGxYqvzZ2yu_vUbcncyzZXbovHc5abJqc130_provenance.
• NP6506.RA-2v9WP3PvSk3bh19Q2WaZ-IaC-_Z47Z6Y8GUEGgwilE130_assertion description "[Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6506.RA-2v9WP3PvSk3bh19Q2WaZ-IaC-_Z47Z6Y8GUEGgwilE130_provenance.
• NP6509.RA2afuCKWrss5mobyjY4AHpWhZZh1UiwEiLHzzFBC3Q8E130_assertion description "[Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6509.RA2afuCKWrss5mobyjY4AHpWhZZh1UiwEiLHzzFBC3Q8E130_provenance.
• NP6510.RA4iSKxErY6dYAhWSDMowO47FZd0y-yyrJCHu48uSnxwM130_assertion description "[TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6510.RA4iSKxErY6dYAhWSDMowO47FZd0y-yyrJCHu48uSnxwM130_provenance.
• NP6511.RA_cXZVg5sEM6ROgZI6x93hYrOMhQ8icYqoILsUS-q_es130_assertion description "[TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6511.RA_cXZVg5sEM6ROgZI6x93hYrOMhQ8icYqoILsUS-q_es130_provenance.
• NP6512.RA7n5-CZeSPjWFPhBP4M8ow2vfzk2M0w4meuODPPbazOU130_assertion description "[Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6512.RA7n5-CZeSPjWFPhBP4M8ow2vfzk2M0w4meuODPPbazOU130_provenance.
• NP6515.RA52m5ql3Tj71UIieiDC6e6ZISNxttP-ZNQyK2IUL-n5U130_assertion description "[Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6515.RA52m5ql3Tj71UIieiDC6e6ZISNxttP-ZNQyK2IUL-n5U130_provenance.
• NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_assertion description "[A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6517.RA8ceTnu-2Ruf3REzjI2IefybzgTCfcYj-ZL0dSabkGeo130_provenance.
• NP6521.RAx5wj0rLy-wk57SEolVYsWuLoyGBTrpfNzcD9OMRGL6I130_assertion description "[Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6521.RAx5wj0rLy-wk57SEolVYsWuLoyGBTrpfNzcD9OMRGL6I130_provenance.
• NP6529.RA8FJVZ6D7G7HVMHD4_51rpXzHjbeeHJPtvGPjSUUB93A130_assertion description "[A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6529.RA8FJVZ6D7G7HVMHD4_51rpXzHjbeeHJPtvGPjSUUB93A130_provenance.
• NP6530.RA1Ojah5UJYA1TAG8uZpPX3IbQzb_od8YGm18xegWnS_Q130_assertion description "[Aneurysm syndromes caused by mutations in the TGF-beta receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6530.RA1Ojah5UJYA1TAG8uZpPX3IbQzb_od8YGm18xegWnS_Q130_provenance.
• NP6532.RA-4aaV8zAoHRRLBu1TT90ij-3b6ZUCm4LaOlPOba9C7Y130_assertion description "[Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6532.RA-4aaV8zAoHRRLBu1TT90ij-3b6ZUCm4LaOlPOba9C7Y130_provenance.
• NP6537.RA0SxdME9nwpZfw6Xgav3xlX8fNpq4qaW7Pmm1bYGIOM0130_assertion description "[Patterns of somatic mutation in human cancer genomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6537.RA0SxdME9nwpZfw6Xgav3xlX8fNpq4qaW7Pmm1bYGIOM0130_provenance.
• NP6544.RAw3bRbFGEDhL9E4CfQsg0yihLTgqWQOhMXEjxfZEroPc130_assertion description "[Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6544.RAw3bRbFGEDhL9E4CfQsg0yihLTgqWQOhMXEjxfZEroPc130_provenance.
• NP6552.RA93BGmMwauwpnZQyNzUVyRR6fljp4LVUeZHoIOwyetOs130_assertion description "[Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6552.RA93BGmMwauwpnZQyNzUVyRR6fljp4LVUeZHoIOwyetOs130_provenance.
• NP6557.RA_QMN48er3Ek4IBi6VgC9-EA-iJVdImcN-L5n5AJlI0I130_assertion description "[Our data suggest that the greatly reduced transglutaminase 1 activities are due to disruptions of the native folding of transglutaminase 1, and that these mutations may play a critical role in the pathology of lamellar ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6557.RA_QMN48er3Ek4IBi6VgC9-EA-iJVdImcN-L5n5AJlI0I130_provenance.
• NP6567.RA31WB_T2dKC7kxahGZ_5whFAi7I-mFZbYDj-thLkAI4g130_assertion description "[Clinical presentation and DYT6/THAP1 mutations among Chinese patients with primary dystonia have not been well studied.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6567.RA31WB_T2dKC7kxahGZ_5whFAi7I-mFZbYDj-thLkAI4g130_provenance.
• NP6568.RA3GNulipoLW01a-Q3krkbRWtxd9-_FKSIo51gF0uc-L4130_assertion description "[These data suggest that early-onset dystonia that includes the involvement of the larynx or face is frequently associated with THAP1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6568.RA3GNulipoLW01a-Q3krkbRWtxd9-_FKSIo51gF0uc-L4130_provenance.
• NP6569.RAyAbybiBFYJHovjaKaeaVr1TzciOzL-y6buiZPybJUr0130_assertion description "[A heterogeneous collection of THAP1 sequence variants is associated with varied anatomical distributions and onset ages of both familial and sporadic primary dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6569.RAyAbybiBFYJHovjaKaeaVr1TzciOzL-y6buiZPybJUr0130_provenance.
• NP6570.RA1AcMP2hxNEkHbqgYXRn8-Aw2vCRr3NdGB_i6XrfCENI130_assertion description "[Prevalence of THAP1 sequence variants in German patients with primary dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6570.RA1AcMP2hxNEkHbqgYXRn8-Aw2vCRr3NdGB_i6XrfCENI130_provenance.
• NP6572.RA6auoCttfq4u617rDVswObqY2aV3Uj2dDCktK9O5RJUA130_assertion description "[Mutations in THAP1 have been associated with dystonia 6 (DYT6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6572.RA6auoCttfq4u617rDVswObqY2aV3Uj2dDCktK9O5RJUA130_provenance.
• NP6575.RA05-NPas_n3iltLPfU1KFV-yk-7tLqcvehVaVuKrnAv0130_assertion description "[Homozygous THAP1 mutations as cause of early-onset generalized dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6575.RA05-NPas_n3iltLPfU1KFV-yk-7tLqcvehVaVuKrnAv0130_provenance.
• NP6582.RAyPqGPFKkbwZcVhCnMDWv1R4wk4iwGxeSgP-ql7hVWog130_assertion description "[Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6582.RAyPqGPFKkbwZcVhCnMDWv1R4wk4iwGxeSgP-ql7hVWog130_provenance.
• NP6585.RA8EXbluitKNR-BvbVedlKc3n3HzhzChxQNzo6qSgj9Wg130_assertion description "[T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6585.RA8EXbluitKNR-BvbVedlKc3n3HzhzChxQNzo6qSgj9Wg130_provenance.
• NP6590.RA5feu1BGrgke67r3HpGqvVpXMCnpZv7U7ZJHifionlLw130_assertion description "[Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6590.RA5feu1BGrgke67r3HpGqvVpXMCnpZv7U7ZJHifionlLw130_provenance.
• NP6597.RA_2YGlQSAAkPzXQc2HXDPfAs98B2rSxqjqQmpnX9LABQ130_assertion description "[The new findings add to an emerging pattern of SFD mutations which all seem to affect the C-terminal region of the mature TIMP3 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6597.RA_2YGlQSAAkPzXQc2HXDPfAs98B2rSxqjqQmpnX9LABQ130_provenance.
• NP6606.RA2Nz12elXgvv69h9SK9sx9KMgdUFwfOAqfJYnL_QwpZ0130_assertion description "[Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6606.RA2Nz12elXgvv69h9SK9sx9KMgdUFwfOAqfJYnL_QwpZ0130_provenance.
• NP6608.RA5CRDRX5nDIMQF8lGLpu-CZYzWjKccLv8M4gtaRIeQ5Y130_assertion description "[Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6608.RA5CRDRX5nDIMQF8lGLpu-CZYzWjKccLv8M4gtaRIeQ5Y130_provenance.
• NP6612.RA96NRSIwzps8fYRcpAdGlYZjre0Rif3R3MyzPVdz3zO8130_assertion description "[Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6612.RA96NRSIwzps8fYRcpAdGlYZjre0Rif3R3MyzPVdz3zO8130_provenance.
• NP6613.RA4JPzbfgGu6oePzGeAxqgvcaytSH0eIve5Ea1Hnerc5M130_assertion description "[Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6613.RA4JPzbfgGu6oePzGeAxqgvcaytSH0eIve5Ea1Hnerc5M130_provenance.
• NP6614.RA7FmA-vudPlX9gExFVkfikLuJRF3pG7wqQ2wjGLo6Yl4130_assertion description "[Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6614.RA7FmA-vudPlX9gExFVkfikLuJRF3pG7wqQ2wjGLo6Yl4130_provenance.
• NP6623.RAyCcLPOqsjtJWfQtgKMjO6uW4nz6r0rCPeBOEg9t-wHY130_assertion description "[Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6623.RAyCcLPOqsjtJWfQtgKMjO6uW4nz6r0rCPeBOEg9t-wHY130_provenance.
• NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_assertion description "[Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6627.RA94i-CH_jFGPSxlRika4KgPQbW2eonshV_oxnY6O-_jQ130_provenance.
• NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_assertion description "[Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6629.RAzVtyXVQb5gcLNYX4QdnkKtUe6wZ54eM9GdQgCiyUktU130_provenance.
• NP6637.RA5XhfBkH_1B8c8xSFSG3KxL7hz7POpqjokciUvhYbMO4130_assertion description "[Matriptase-2 mutations have been reported in several patients with iron-refractory iron deficiency anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6637.RA5XhfBkH_1B8c8xSFSG3KxL7hz7POpqjokciUvhYbMO4130_provenance.
• NP6638.RA8onR4VU8nJjX2PBsGE2eGT0HHIy8lGRNufUdYhGYH2s130_assertion description "[A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6638.RA8onR4VU8nJjX2PBsGE2eGT0HHIy8lGRNufUdYhGYH2s130_provenance.
• NP6647.RA4TenWbXk2V6DsO9K9qSfIUanc6XLdkfdpYZ2l32kU0I130_assertion description "[Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6647.RA4TenWbXk2V6DsO9K9qSfIUanc6XLdkfdpYZ2l32kU0I130_provenance.
• NP6656.RA8VHOfVzBM5xzoCLbTX6lITJIMF4kPHPxo11ZroscT48130_assertion description "[Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6656.RA8VHOfVzBM5xzoCLbTX6lITJIMF4kPHPxo11ZroscT48130_provenance.
• NP6657.RA1-vGvwTxck2tk7S0JH31oK2YZt0C4o3oyhMAoHRIv-U130_assertion description "[Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6657.RA1-vGvwTxck2tk7S0JH31oK2YZt0C4o3oyhMAoHRIv-U130_provenance.
• NP6658.RA_Aof9DP5tRHWJ9-CySsIqf5-1VgNi-hFxIs-xRxuDDw130_assertion description "[Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6658.RA_Aof9DP5tRHWJ9-CySsIqf5-1VgNi-hFxIs-xRxuDDw130_provenance.
• NP6674.RAz_YjVSenD97Cguj2dDGoiRGc-rXrIjUI0JBYJf_ZAOk130_assertion description "[Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6674.RAz_YjVSenD97Cguj2dDGoiRGc-rXrIjUI0JBYJf_ZAOk130_provenance.
• NP6675.RA1Wrg-YrHZ19jz3em-zB-oHvRvsRyKR3oVAGrFJ6lMCQ130_assertion description "[Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6675.RA1Wrg-YrHZ19jz3em-zB-oHvRvsRyKR3oVAGrFJ6lMCQ130_provenance.
• NP6681.RA00kn6HgXDCh_FcMOljs28Q7_NHO-ZNRD_iMIiKeHucY130_assertion description "[Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6681.RA00kn6HgXDCh_FcMOljs28Q7_NHO-ZNRD_iMIiKeHucY130_provenance.
• NP6683.RA4gu4XpJpSCYc4byLcvWRyZU1T5AqnxTupqcbI38rT9g130_assertion description "[p53 alterations in human squamous cell carcinomas and carcinoma cell lines.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6683.RA4gu4XpJpSCYc4byLcvWRyZU1T5AqnxTupqcbI38rT9g130_provenance.
• NP6693.RA16wkZAZCuWjd9HfTanZkO6uJh0xA15sFroWhhrQzB6M130_assertion description "[Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6693.RA16wkZAZCuWjd9HfTanZkO6uJh0xA15sFroWhhrQzB6M130_provenance.
• NP6697.RA1L7RY-KlXNInlZIEVrz3H3LxH0kvRRAEcHLDDWZAzo0130_assertion description "[Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6697.RA1L7RY-KlXNInlZIEVrz3H3LxH0kvRRAEcHLDDWZAzo0130_provenance.
• NP6698.RA5dIfZ4csAwhYFP6Y-sCzjMmu7XnDOezWft_dNONKdCg130_assertion description "[Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6698.RA5dIfZ4csAwhYFP6Y-sCzjMmu7XnDOezWft_dNONKdCg130_provenance.
• NP6702.RA1Ot-Wp-rr-N01oa67Hu7zQIUBV3O-UyaaTmaKkifzE0130_assertion description "[The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6702.RA1Ot-Wp-rr-N01oa67Hu7zQIUBV3O-UyaaTmaKkifzE0130_provenance.
• NP6704.RAzZpKKvrePOhqUpruzVYS8UqBNcE3Ixvak1wooADQkdY130_assertion description "[Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6704.RAzZpKKvrePOhqUpruzVYS8UqBNcE3Ixvak1wooADQkdY130_provenance.
• NP6706.RA0L8KlkyHbqBgTVttrPKfnnZta-nmYJ5Mm-dUhs2NwCM130_assertion description "[Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6706.RA0L8KlkyHbqBgTVttrPKfnnZta-nmYJ5Mm-dUhs2NwCM130_provenance.
• NP6712.RA-tUIl5yzZZtW4eliicu0yHVw9MRiHZszhRNU0qqLpj8130_assertion description "[Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6712.RA-tUIl5yzZZtW4eliicu0yHVw9MRiHZszhRNU0qqLpj8130_provenance.
• NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_assertion description "[Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6719.RAzVk9OW0_a0NYD0lbTlQe5RZypxTbzYas0VfOB4xi9iE130_provenance.
• NP6720.RA4lrcglw0MwnT3u7agwXXTn9h1mQ72HkA6VEAPvl0w8c130_assertion description "[Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6720.RA4lrcglw0MwnT3u7agwXXTn9h1mQ72HkA6VEAPvl0w8c130_provenance.
• NP6721.RA4Om8ukmvuwZbk_QXkZrZdRWlDVLlmpqUJIA7v9u-Zr8130_assertion description "[Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6721.RA4Om8ukmvuwZbk_QXkZrZdRWlDVLlmpqUJIA7v9u-Zr8130_provenance.
• NP6722.RA3H-vEqOycvknyw3zrwH-06NHUxvAHNDRQ1OO-v0A6Jo130_assertion description "[Mutations in eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8) have been identified and several more are predicted to exist, including two provisionally named CLN4 and CLN9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6722.RA3H-vEqOycvknyw3zrwH-06NHUxvAHNDRQ1OO-v0A6Jo130_provenance.
• NP6727.RAw0vJniFJgwgZGsF5yR2JjM0REBC8X1B92HwyHXLzaWM130_assertion description "[Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6727.RAw0vJniFJgwgZGsF5yR2JjM0REBC8X1B92HwyHXLzaWM130_provenance.
• NP6728.RA8BraaUXTxjqxXSIBZeB5cOmziOIBv_q3a-DM5Qbp23U130_assertion description "[Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6728.RA8BraaUXTxjqxXSIBZeB5cOmziOIBv_q3a-DM5Qbp23U130_provenance.
• NP6733.RA-tL7vtyJkIA5lAOeA5cyd9OOWf45DPaq4pb2gKja860130_assertion description "[TREX1 acts in concert with the SET complex in granzyme A-mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutires syndrome and familial chilblain lupus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6733.RA-tL7vtyJkIA5lAOeA5cyd9OOWf45DPaq4pb2gKja860130_provenance.
• NP6735.RAwa0WoOPM4fugvNOZvVenyw-pCq5qqT4DKYCxTHhzeIU130_assertion description "[Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6735.RAwa0WoOPM4fugvNOZvVenyw-pCq5qqT4DKYCxTHhzeIU130_provenance.
• NP6736.RA6eiHzNQ9aJfBbDVkK13QH4tkuMe_GnizRWAz1XUu0sI130_assertion description "[A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutires syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6736.RA6eiHzNQ9aJfBbDVkK13QH4tkuMe_GnizRWAz1XUu0sI130_provenance.
• NP6739.RA5OehO4yVyRauU0eqYD8bJ4Y-YnTt_724XnKUOBYGiHk130_assertion description "[Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6739.RA5OehO4yVyRauU0eqYD8bJ4Y-YnTt_724XnKUOBYGiHk130_provenance.
• NP6742.RAzW2MUZQRwAp7fgHbaN9C73t3ROxaygFtnwaqJhlP-r4130_assertion description "[TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6742.RAzW2MUZQRwAp7fgHbaN9C73t3ROxaygFtnwaqJhlP-r4130_provenance.
• NP6743.RA4dL7gt09VYQT2iElEigcUaq_zgquvO-yyuMX7AUMbyk130_assertion description "[Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6743.RA4dL7gt09VYQT2iElEigcUaq_zgquvO-yyuMX7AUMbyk130_provenance.
• NP6747.RA_Sl4XDPVoG3ODEOLRN2fQ000O0HZRYV8muPLz16NJcA130_assertion description "[A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6747.RA_Sl4XDPVoG3ODEOLRN2fQ000O0HZRYV8muPLz16NJcA130_provenance.
• NP6748.RAxwunguPUpLZvT01rGDdRb24-1ofvtufPs_Gxb135FOw130_assertion description "[We identified five families with autosomal dominant focal segmental glomerulosclerosis in which disease segregated with mutations in the gene TRPC6 on chromosome 11q.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6748.RAxwunguPUpLZvT01rGDdRb24-1ofvtufPs_Gxb135FOw130_provenance.
• NP6749.RA4YJFiLQGe4RTBvnfUyE0ybqKq8Uf456PbjDY7sG3sxo130_assertion description "[TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6749.RA4YJFiLQGe4RTBvnfUyE0ybqKq8Uf456PbjDY7sG3sxo130_provenance.
• NP6751.RA18imE29jhlYmuQkqna2bT66SC5U8GPClfyqKjyJfmro130_assertion description "[TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6751.RA18imE29jhlYmuQkqna2bT66SC5U8GPClfyqKjyJfmro130_provenance.
• NP6753.RA3cU3OZbnntbyV_Bj2fqtpNxKeU55YbwgTBsGnuSsLnk130_assertion description "[Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6753.RA3cU3OZbnntbyV_Bj2fqtpNxKeU55YbwgTBsGnuSsLnk130_provenance.
• NP6760.RA95Pm5UV_2oBPqId98lgZ0aexnNbE7PtGk7RkJcjXEqM130_assertion description "[Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6760.RA95Pm5UV_2oBPqId98lgZ0aexnNbE7PtGk7RkJcjXEqM130_provenance.
• NP6763.RA4UBpQYR8swN8afEiCWiwugRpkTmOSzp4OemZEQcqi1Y130_assertion description "[Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6763.RA4UBpQYR8swN8afEiCWiwugRpkTmOSzp4OemZEQcqi1Y130_provenance.
• NP6764.RA8vbWfaxcYJUH1HAH9jpNjYUcJ8dMVyVM8rBrGvPqyYk130_assertion description "[Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6764.RA8vbWfaxcYJUH1HAH9jpNjYUcJ8dMVyVM8rBrGvPqyYk130_provenance.
• NP6768.RA87i7fvDg1pv5Md1h5fOuARvmhYBuS7WMSJz_raq1K20130_assertion description "[TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6768.RA87i7fvDg1pv5Md1h5fOuARvmhYBuS7WMSJz_raq1K20130_provenance.
• NP6770.RA0Fcpw-O3awsk6Rn_9vTnRCirtR-vzOB4YfHf8dZeq9A130_assertion description "[CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6770.RA0Fcpw-O3awsk6Rn_9vTnRCirtR-vzOB4YfHf8dZeq9A130_provenance.
• NP6775.RA-sLSIAQ31ew5BjWvd2sbu02wnXVo6AP8XqEtE2LnSkg130_assertion description "[Here we show in three unrelated families that FDAB is caused by mutations encoding p.Gly270Val, p.Arg271Pro and p.Phe273Leu substitutions in the intracellular ankyrin-repeat domain of the cation channel TRPV4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6775.RA-sLSIAQ31ew5BjWvd2sbu02wnXVo6AP8XqEtE2LnSkg130_provenance.
• NP6777.RA4t9frgRQ9WY35iR8pfgEzXXYHOWBT-DCMZW5k3f4oVs130_assertion description "[Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6777.RA4t9frgRQ9WY35iR8pfgEzXXYHOWBT-DCMZW5k3f4oVs130_provenance.
• NP6779.RA5xgUTjKQdry70iDUlUW8cptukE61m5FF3SbF1GErHgg130_assertion description "[Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6779.RA5xgUTjKQdry70iDUlUW8cptukE61m5FF3SbF1GErHgg130_provenance.
• NP6781.RA9DYw7qj8sOeySnaIfHP6n6dO14Q3xBxHozHVkb9vl2M130_assertion description "[Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6781.RA9DYw7qj8sOeySnaIfHP6n6dO14Q3xBxHozHVkb9vl2M130_provenance.
• NP6794.RA6knt_YoNRB_bQM9eu0YtNE5l1o3L1w-rgoq8uKh0YFQ130_assertion description "[Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6794.RA6knt_YoNRB_bQM9eu0YtNE5l1o3L1w-rgoq8uKh0YFQ130_provenance.
• NP6801.RA6dHUgrG_mQmPinXcLRg_ME_TNCknfVH5ZQ6cj5vleZk130_assertion description "[Hereditary nonautoimmune hyperthyroidism is caused by activating germline mutations in the thyrotropin (TSH) receptor (TSHR) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6801.RA6dHUgrG_mQmPinXcLRg_ME_TNCknfVH5ZQ6cj5vleZk130_provenance.
• NP6802.RA5Gi5tu88gv8UF8D0d3dOaSmFTkdaQHPwxz8QmbA9_Uk130_assertion description "[Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6802.RA5Gi5tu88gv8UF8D0d3dOaSmFTkdaQHPwxz8QmbA9_Uk130_provenance.
• NP6804.RA-anRIeNN0VtwRCbIT6Ljp77uouzgCc_NgkKZCt9HYyU130_assertion description "[Activating mutations of the TSH receptor (TSH-R) have been reported to result in toxic adenomas, multinodular goiters, sporadic neonatal hyperthyroidism, and familial autosomal dominant nonautoimmune hyperthyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6804.RA-anRIeNN0VtwRCbIT6Ljp77uouzgCc_NgkKZCt9HYyU130_provenance.
• NP6809.RA5FYhEVboTbxJ88tsVkyBU1sS5FM3XYzzxHDjD983V5g130_assertion description "[Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6809.RA5FYhEVboTbxJ88tsVkyBU1sS5FM3XYzzxHDjD983V5g130_provenance.
• NP6812.RA0POQOCwxM7X4ky8PCVTH6MOgUEvOH6e1nEEQF2tgLtc130_assertion description "[Four families with loss of function mutations of the thyrotropin receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6812.RA0POQOCwxM7X4ky8PCVTH6MOgUEvOH6e1nEEQF2tgLtc130_provenance.
• NP6819.RA_YqtfhwuwSTyYKLYQc1hje-GMXTSv2Lur1qzIsAsYTY130_assertion description "[A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6819.RA_YqtfhwuwSTyYKLYQc1hje-GMXTSv2Lur1qzIsAsYTY130_provenance.
• NP6821.RA3S_v2ZS-tCaYatROuOz6_fT2aIEZFTb_YS5Fq0MC0s8130_assertion description "[Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6821.RA3S_v2ZS-tCaYatROuOz6_fT2aIEZFTb_YS5Fq0MC0s8130_provenance.
• NP6824.RA5Gt8a9NQLQzhImvKvuI9PKCO9P1daueiezxYHQBLzBI130_assertion description "[Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6824.RA5Gt8a9NQLQzhImvKvuI9PKCO9P1daueiezxYHQBLzBI130_provenance.
• NP6837.RAzUrjDOsid-nk-WH4xUMDKrkm_zPiL5OrmPPw9f7-8hw130_assertion description "[Genetic microheterogeneity of human transthyretin detected by IEF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6837.RAzUrjDOsid-nk-WH4xUMDKrkm_zPiL5OrmPPw9f7-8hw130_provenance.
• NP6846.RA-7swd22p5_PnFbhajpp1AYRWsRLeKIfR-R3RyTER_v8130_assertion description "[Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6846.RA-7swd22p5_PnFbhajpp1AYRWsRLeKIfR-R3RyTER_v8130_provenance.
• NP6859.RAzESIN1wxbWKstmKXdGsMxWO8qnZATn-3y9K9Np_5ttw130_assertion description "[Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6859.RAzESIN1wxbWKstmKXdGsMxWO8qnZATn-3y9K9Np_5ttw130_provenance.
• NP6865.RA43WOJBFHL6tcvIFnIEBwBDjofvUuKqYk3rWXTOcIWOI130_assertion description "[Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6865.RA43WOJBFHL6tcvIFnIEBwBDjofvUuKqYk3rWXTOcIWOI130_provenance.
• NP6868.RA5DIJwzVCTWl_6B-28XaUIqve_erWee25EW1ThmHE7Oc130_assertion description "[Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6868.RA5DIJwzVCTWl_6B-28XaUIqve_erWee25EW1ThmHE7Oc130_provenance.
• NP6870.RA7myAMCtG2ETZI2hsrXCXVtfBoTEP-1Z2jXW8n1ix6wU130_assertion description "[Mutations in the tyrosinase gene established the diagnosis of oculocutaneous albinism 1 even though the patient had atypical clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6870.RA7myAMCtG2ETZI2hsrXCXVtfBoTEP-1Z2jXW8n1ix6wU130_provenance.
• NP6879.RA19mJMBTj5VFKk1xFIV1YtW0B0NUpigkfsrzAGULNe6o130_assertion description "[Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6879.RA19mJMBTj5VFKk1xFIV1YtW0B0NUpigkfsrzAGULNe6o130_provenance.
• NP6888.RAwEzD2WAry5NoNaH_IcScbTX4R5HsQBXotmas8OI_Lhg130_assertion description "[Our newly reported UBIAD1 mutation suggests that CDCD is actually a variant of SCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6888.RAwEzD2WAry5NoNaH_IcScbTX4R5HsQBXotmas8OI_Lhg130_provenance.
• NP6897.RA6U7ZLtCPIJQLFDz2TJAfAroAZp6QBKlMctImMhIMWvE130_assertion description "[CN1 is the most severe form, associated with the absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6897.RA6U7ZLtCPIJQLFDz2TJAfAroAZp6QBKlMctImMhIMWvE130_provenance.
• NP6901.RA9tkS21giqLY-YW2vltOQkV1eBn0y2DATl8lih4u90Zc130_assertion description "[CN2 presents intermediate levels of hyperbilirubinaemia as a result of an incomplete deficiency of hepatic UGT1A1 activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6901.RA9tkS21giqLY-YW2vltOQkV1eBn0y2DATl8lih4u90Zc130_provenance.
• NP6906.RA-nxXQdoYcuLg0-TVPuqR3DUxN_UhhOUTNORvqbBR9N8130_assertion description "[Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6906.RA-nxXQdoYcuLg0-TVPuqR3DUxN_UhhOUTNORvqbBR9N8130_provenance.
• NP6909.RA5EF5Ay4XKTwJ17HQC_FpV0f8wNk996CDoVqr58MBZCg130_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." NP6909.RA5EF5Ay4XKTwJ17HQC_FpV0f8wNk996CDoVqr58MBZCg130_provenance.
• NP6911.RA1E9C4s8s4j43T05v6cycxPtgjkZl24VzpZV1XhwtK9Q130_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." NP6911.RA1E9C4s8s4j43T05v6cycxPtgjkZl24VzpZV1XhwtK9Q130_provenance.

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