Nanopublications LDF server

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

• NP6077.RA8A49yaHdzpNsUt_eubxCELX7apIQsf2ocOQY47rGQD4130_assertion description "[Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6077.RA8A49yaHdzpNsUt_eubxCELX7apIQsf2ocOQY47rGQD4130_provenance.
• NP6078.RA-da27kEO7qRIgIqWBX7v1KlrNBfMplnnjause8ErZbo130_assertion description "[Clinical and molecular analysis of three Mexican families with Pendred's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6078.RA-da27kEO7qRIgIqWBX7v1KlrNBfMplnnjause8ErZbo130_provenance.
• NP6081.RA4f_0-J1eQW3rddoCpL9MYJQcGcynWnKrJC5pLO43CGc130_assertion description "[Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6081.RA4f_0-J1eQW3rddoCpL9MYJQcGcynWnKrJC5pLO43CGc130_provenance.
• NP6083.RA9nHmSdgfvKDWyxGQei8wIbNL2WVEGhyQwuHE0-og7CQ130_assertion description "[Herein, we report three new patients from a single family who present with phenotypes that associate features of both PHID and H syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6083.RA9nHmSdgfvKDWyxGQei8wIbNL2WVEGhyQwuHE0-og7CQ130_provenance.
• NP6084.RA6ka0XPZ7rJCG9Wk2Db6WJvwMz43rIbrEoQIf4oZ7Dcg130_assertion description "[Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6084.RA6ka0XPZ7rJCG9Wk2Db6WJvwMz43rIbrEoQIf4oZ7Dcg130_provenance.
• NP6085.RAwBwKIY1FlWsThoaR8zRVDwZ7fDEiz1Gt-AGlGCIgcwk130_assertion description "[SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6085.RAwBwKIY1FlWsThoaR8zRVDwZ7fDEiz1Gt-AGlGCIgcwk130_provenance.
• NP6088.RA4Qx2FeVcKS-B9e5TroTHpEDYrEu5M1mls-T-h_Nm9W8130_assertion description "[In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6088.RA4Qx2FeVcKS-B9e5TroTHpEDYrEu5M1mls-T-h_Nm9W8130_provenance.
• NP6097.RA6HLTvA9mUWDXgiJZi9yle--YUYgKZ8_WtIn_xFt22NU130_assertion description "[Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6097.RA6HLTvA9mUWDXgiJZi9yle--YUYgKZ8_WtIn_xFt22NU130_provenance.
• NP6104.RAyUaGnYnE_8oWLDbUbeMd_vtY_H2TeJzVu8c33rCZZI4130_assertion description "[Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6104.RAyUaGnYnE_8oWLDbUbeMd_vtY_H2TeJzVu8c33rCZZI4130_provenance.
• NP6111.RA5gLeOqx3rhQuahE4Xm9Ev_Du1bAxhsjOiAr0n7Uu0nA130_assertion description "[Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6111.RA5gLeOqx3rhQuahE4Xm9Ev_Du1bAxhsjOiAr0n7Uu0nA130_provenance.
• NP6117.RA9tGFSi2JTkvPHFoH0WERaTmULSJGgCXeOWzNYvQB48s130_assertion description "[Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6117.RA9tGFSi2JTkvPHFoH0WERaTmULSJGgCXeOWzNYvQB48s130_provenance.
• NP6118.RA12cNXJFOJeKI12Z8t5TP7isA76M7PMzK8oALulpVdYc130_assertion description "[A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6118.RA12cNXJFOJeKI12Z8t5TP7isA76M7PMzK8oALulpVdYc130_provenance.
• NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_assertion description "[A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6119.RA4EAJDZApbrR-Pypyq0ApXR6RcNXD7TeNCmmYmICHl70130_provenance.
• NP6121.RAxtmOkghNbqS0PiuIeY1kskFNM0UIPP01CV-t_QY6c9s130_assertion description "[Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6121.RAxtmOkghNbqS0PiuIeY1kskFNM0UIPP01CV-t_QY6c9s130_provenance.
• NP6135.RAyl9q47xQX_PxDjL8RVw-IChzc2E2eIytkSgMgZ4WO4Y130_assertion description "[Mutation analysis in glycogen storage disease type 1 non-a.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6135.RAyl9q47xQX_PxDjL8RVw-IChzc2E2eIytkSgMgZ4WO4Y130_provenance.
• NP6140.RAwVCUeR3t_sUEXXwqnYUtvlMDUJGjGGsi1dNpcdbbQrY130_assertion description "[In this article, we identify a gene, SLC39A4, located in the candidate region and, in patients with AE, document mutations that likely lead to the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6140.RAwVCUeR3t_sUEXXwqnYUtvlMDUJGjGGsi1dNpcdbbQrY130_provenance.
• NP6144.RA4vol9OUpP6l_jdeZdFsybumEmnD_YQVGb53UShb617s130_assertion description "[Mutations of the basic amino acid transporter gene associated with cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6144.RA4vol9OUpP6l_jdeZdFsybumEmnD_YQVGb53UShb617s130_provenance.
• NP6148.RAx8a7EjDBfS7Ky91OuIKRzh76GLcgBNFU3vEQe6jEkPw130_assertion description "[Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6148.RAx8a7EjDBfS7Ky91OuIKRzh76GLcgBNFU3vEQe6jEkPw130_provenance.
• NP6152.RA8oG75dGvFu-KfrEki0iEnqg1hUCbs-QsVqyEI3LZZ88130_assertion description "[Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6152.RA8oG75dGvFu-KfrEki0iEnqg1hUCbs-QsVqyEI3LZZ88130_provenance.
• NP6157.RA0EQi-bbiaMRuIuVT6gRnEiE96EgbfNmis0eiGkkwC2g130_assertion description "[Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6157.RA0EQi-bbiaMRuIuVT6gRnEiE96EgbfNmis0eiGkkwC2g130_provenance.
• NP6166.RAyeVB-JTOELujhB7OS5bGtGwACAg0ctJAbJks3F4SBDg130_assertion description "[Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6166.RAyeVB-JTOELujhB7OS5bGtGwACAg0ctJAbJks3F4SBDg130_provenance.
• NP6167.RA_SSgg49y4TM0ZYUOwuPoyEnJD1DGDqpM_6ew5lbThRM130_assertion description "[Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6167.RA_SSgg49y4TM0ZYUOwuPoyEnJD1DGDqpM_6ew5lbThRM130_provenance.
• NP6169.RA6VLGu-goNr3kpFCUJgH-H8D2CIkaaC7iasnlVumnm30130_assertion description "[Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6169.RA6VLGu-goNr3kpFCUJgH-H8D2CIkaaC7iasnlVumnm30130_provenance.
• NP6172.RA7--PRnpVHoxE-9lvg7ju7VUOnUEF3rGVDwEeYd5zNUU130_assertion description "[Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6172.RA7--PRnpVHoxE-9lvg7ju7VUOnUEF3rGVDwEeYd5zNUU130_provenance.
• NP6181.RA7vCs03TbK2TNMTfoYPAM1H6RxbVTaCrszRvxhLeRAxA130_assertion description "[Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6181.RA7vCs03TbK2TNMTfoYPAM1H6RxbVTaCrszRvxhLeRAxA130_provenance.
• NP6185.RAzCXXhyp0Tn6ZpCrLQ2oIoSjyOy0gnL4aNvJm3r4jpm4130_assertion description "[Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6185.RAzCXXhyp0Tn6ZpCrLQ2oIoSjyOy0gnL4aNvJm3r4jpm4130_provenance.
• NP6192.RA7XtSvocOothz2IPdR9W2e9un1Qxdcgw33J_7kurlaA8130_assertion description "[Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6192.RA7XtSvocOothz2IPdR9W2e9un1Qxdcgw33J_7kurlaA8130_provenance.
• NP6202.RA6-HTzbSS4zWp8I6hIUJ3tzziZAnZYI9wDk_fiGxLS0g130_assertion description "[Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6202.RA6-HTzbSS4zWp8I6hIUJ3tzziZAnZYI9wDk_fiGxLS0g130_provenance.
• NP6203.RA1rO8wTpynnT4s7rLeBdKKne7wN5ZZNQAmrEOhjGMSkI130_assertion description "[A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6203.RA1rO8wTpynnT4s7rLeBdKKne7wN5ZZNQAmrEOhjGMSkI130_provenance.
• NP6204.RAy1AlOo2G3NlIAqgkmjD3AMGMiGmyTYEWIxVORygHN5o130_assertion description "[We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6204.RAy1AlOo2G3NlIAqgkmjD3AMGMiGmyTYEWIxVORygHN5o130_provenance.
• NP6206.RA7xx1_2CHSliqOBC3kmsGjU6SaLXt7LuhAsbdMabfez8130_assertion description "[We tested the hypothesis that impaired functioning of the norepinephrine transporter contributes to the pathophysiologic mechanism of orthostatic intolerance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6206.RA7xx1_2CHSliqOBC3kmsGjU6SaLXt7LuhAsbdMabfez8130_provenance.
• NP6208.RA453rJpu3KT2FD1irKZDMsqFmnK_iJWObdJJ9TtNRWJg130_assertion description "[High prevalence of SLC6A8 deficiency in X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6208.RA453rJpu3KT2FD1irKZDMsqFmnK_iJWObdJJ9TtNRWJg130_provenance.
• NP6209.RA8cIHJby1_b18T2opMShL8DdxgssQYOV5HLQtO9MfRys130_assertion description "[X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6209.RA8cIHJby1_b18T2opMShL8DdxgssQYOV5HLQtO9MfRys130_provenance.
• NP6220.RAy3genjtnxVdwUvH0kkr4AGG5iV5j2XtTE9WMCqBDMzU130_assertion description "[Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6220.RAy3genjtnxVdwUvH0kkr4AGG5iV5j2XtTE9WMCqBDMzU130_provenance.
• NP6221.RA94_F6b-N6s-2mWbF0Ti9fOiJSJWbWEFMdskjoCl-xT0130_assertion description "[Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6221.RA94_F6b-N6s-2mWbF0Ti9fOiJSJWbWEFMdskjoCl-xT0130_provenance.
• NP6222.RA_gs25KDqbeNqTAiuJ3TwlZ9jwdDaoZm6px6UZxQhY2g130_assertion description "[Here, we have analyzed four MDM families for mutations in SLURP-1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6222.RA_gs25KDqbeNqTAiuJ3TwlZ9jwdDaoZm6px6UZxQhY2g130_provenance.
• NP6224.RA0szYaxIAUYVBszQwgj4WdxusK7W502sjT-P_dMaNHUo130_assertion description "[Heterozygous manifestations in female carriers of Mal de Meleda.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6224.RA0szYaxIAUYVBszQwgj4WdxusK7W502sjT-P_dMaNHUo130_provenance.
• NP6225.RA3zsDpLM-n-JRWPH3Zfo98dkljuHZdfTebBReFTCasfc130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6225.RA3zsDpLM-n-JRWPH3Zfo98dkljuHZdfTebBReFTCasfc130_provenance.
• NP6231.RA0g5HreMAY6x-BZziHpJnkTUWBO4xg3RXSCbBkv9_go8130_assertion description "[Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6231.RA0g5HreMAY6x-BZziHpJnkTUWBO4xg3RXSCbBkv9_go8130_provenance.
• NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_assertion description "[Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6239.RA0VVy-oCYgszY59r2kPKLCx5cDRyCCv8pwFFNdKzM2BU130_provenance.
• NP6251.RA3r7D-926jlDnkekGKCihZwIZPfyjNPEG_bDV7XLIb8Q130_assertion description "[Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6251.RA3r7D-926jlDnkekGKCihZwIZPfyjNPEG_bDV7XLIb8Q130_provenance.
• NP6254.RA19nY2M-P35KMnyUjsAfjNFLGtyi5u51tukeP8ahzxhE130_assertion description "[Interestingly, the other branch of the original family was found to segregate anophthalmia/syndactyly with a novel homozygous SMOC1 variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6254.RA19nY2M-P35KMnyUjsAfjNFLGtyi5u51tukeP8ahzxhE130_provenance.
• NP6257.RA3X5p63mJ9SNHFU8llFpDAYJrnTVcp2mRDR1tXahWY1s130_assertion description "[Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6257.RA3X5p63mJ9SNHFU8llFpDAYJrnTVcp2mRDR1tXahWY1s130_provenance.
• NP6265.RA4ggGJxPJSIfH4AKrMZH4bbA4_dgjXZMQDKNiffs71xs130_assertion description "[Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6265.RA4ggGJxPJSIfH4AKrMZH4bbA4_dgjXZMQDKNiffs71xs130_provenance.
• NP6268.RA6b1uegiNgn-xOZA9kMxORbKjAFV7MxPQavjcU7g9Tzg130_assertion description "[Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6268.RA6b1uegiNgn-xOZA9kMxORbKjAFV7MxPQavjcU7g9Tzg130_provenance.
• NP6269.RA_oRFKWtlx3nbj-oK1GVMC4g3CMZEmHqb0CKYqBWV4vo130_assertion description "[Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6269.RA_oRFKWtlx3nbj-oK1GVMC4g3CMZEmHqb0CKYqBWV4vo130_provenance.
• NP6281.RA2z4xvkBzjHu3npI3IdXVE5gawI5QqNERdXbaseiU7kI130_assertion description "[Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6281.RA2z4xvkBzjHu3npI3IdXVE5gawI5QqNERdXbaseiU7kI130_provenance.
• NP6285.RA_8QIFxIhHiV2X8JVOQ2KkfpBan-IgdkVNEL4DWosRB4130_assertion description "[Mutations in the Cu/Zn superoxide dismutase gene (SOD-1) are reported in 20% of familial amyotrophic lateral sclerosis (ALS) cases, but no definite report of a mutation in a `truly` sporadic case of ALS has been proved.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6285.RA_8QIFxIhHiV2X8JVOQ2KkfpBan-IgdkVNEL4DWosRB4130_provenance.
• NP6289.RAyKC6ZAABdXPzt2r_cEDOEEobGEGByQD64Rn8tRA5ZPI130_assertion description "[We report a novel missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene of affected members of a Japanese kindred segregating familial amyotrophic lateral sclerosis (FALS) through at least three successive generations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6289.RAyKC6ZAABdXPzt2r_cEDOEEobGEGByQD64Rn8tRA5ZPI130_provenance.
• NP6295.RA3CL0EXtUzWnKAjIUg6w-yt66qOHRtsmHH3LusirfjAE130_assertion description "[Germline gain-of-function mutations in SOS1 cause Noonan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6295.RA3CL0EXtUzWnKAjIUg6w-yt66qOHRtsmHH3LusirfjAE130_provenance.
• NP6298.RA6_O-re0akx1y9-yyXnHAv1e7oye6MsWtj5cNnq7ldLw130_assertion description "[Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6298.RA6_O-re0akx1y9-yyXnHAv1e7oye6MsWtj5cNnq7ldLw130_provenance.
• NP6299.RAxAh7xCExePf0kcoSIsaBumCotTSVL5n_9ZPDxD42gg8130_assertion description "[Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6299.RAxAh7xCExePf0kcoSIsaBumCotTSVL5n_9ZPDxD42gg8130_provenance.
• NP6304.RA_PKG49JTYGdNN-TU2Glvo73sypboChLp8CZiDUIBWqA130_assertion description "[Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6304.RA_PKG49JTYGdNN-TU2Glvo73sypboChLp8CZiDUIBWqA130_provenance.
• NP6311.RA8EqhYGHSIToGm5gAisSsDpIi3Hdxmm9XwXxpqrcYc9M130_assertion description "[Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6311.RA8EqhYGHSIToGm5gAisSsDpIi3Hdxmm9XwXxpqrcYc9M130_provenance.
• NP6314.RA6sHUvk8UgBXAr56UAYLIavXAKrQZXPaFxtj8MnkH4uU130_assertion description "[Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6314.RA6sHUvk8UgBXAr56UAYLIavXAKrQZXPaFxtj8MnkH4uU130_provenance.
• NP6317.RA4FE3e7O_BtJtWFn8nmBAijRMMiGeq2jFpI5ggQQJCjc130_assertion description "[Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6317.RA4FE3e7O_BtJtWFn8nmBAijRMMiGeq2jFpI5ggQQJCjc130_provenance.
• NP6321.RA3agPF3aSZ57HnlMQ6znx_2dCgaV3w_6O5ZSbWNupM-Q130_assertion description "[The present SPG4 family, which was shown to have a novel SPG4 mutation, exhibited marked variability in the clinical features, indicating the participation of additional factors in the phenotypic appearance of this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6321.RA3agPF3aSZ57HnlMQ6znx_2dCgaV3w_6O5ZSbWNupM-Q130_provenance.
• NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_assertion description "[Four of nine probands harboured SPG4 mutations, We identified three new SPG4 mutations, all predicting a loss-of-func-tion with apparently important consequences for spastin function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6322.RA_SDuqmTyGActtCQgU_YrQ6HYJySlVChSRtXknWFpdFM130_provenance.
• NP6325.RA44Qt94tFzlFouqFtolRpEosbOZ_AtOiPSgaM9b91YPg130_assertion description "[Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6325.RA44Qt94tFzlFouqFtolRpEosbOZ_AtOiPSgaM9b91YPg130_provenance.
• NP6327.RAwBpo81zDBVZACPUsExjXCfsumjXf8wi0OiDXKcXmKxA130_assertion description "[Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6327.RAwBpo81zDBVZACPUsExjXCfsumjXf8wi0OiDXKcXmKxA130_provenance.
• NP6331.RAyqHj1qxdaFvEgggpMDB-w8qDHk10X-TECz_mwLh85Jo130_assertion description "[Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6331.RAyqHj1qxdaFvEgggpMDB-w8qDHk10X-TECz_mwLh85Jo130_provenance.
• NP6334.RAxy_qF82siXGnOTekFXGJjJgAZ-DjYfdHs_Qxlp2KDyI130_assertion description "[Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6334.RAxy_qF82siXGnOTekFXGJjJgAZ-DjYfdHs_Qxlp2KDyI130_provenance.
• NP6338.RA4ixx-IdCVRw1iNmnTFeaJZilj1gcdsEVmuL83chJugg130_assertion description "[Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6338.RA4ixx-IdCVRw1iNmnTFeaJZilj1gcdsEVmuL83chJugg130_provenance.
• NP6346.RAwAsmYFSHpKP9QpTX6JmVmV8pWFOOselN8RAcqT3RO3Q130_assertion description "[Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6346.RAwAsmYFSHpKP9QpTX6JmVmV8pWFOOselN8RAcqT3RO3Q130_provenance.
• NP6349.RA49GUfOyIdlUUBBhFTUvuKEcAKBmT2cVJh9404iTCfFU130_assertion description "[Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6349.RA49GUfOyIdlUUBBhFTUvuKEcAKBmT2cVJh9404iTCfFU130_provenance.
• NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_assertion description "[We have discovered that beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6352.RAzxPqdG4GdFF7opd43m2KlQbSJTOjaOR1qiaoa-XrDLk130_provenance.
• NP6354.RA9YihCZzCtPwPdGf5DcmafDN5FK8pGC-05YVRdf24AlI130_assertion description "[Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6354.RA9YihCZzCtPwPdGf5DcmafDN5FK8pGC-05YVRdf24AlI130_provenance.
• NP6356.RA9uhZwWkmke00CWD0DVo7XVp7cm1rLzZsQtbWvbdLvwc130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6356.RA9uhZwWkmke00CWD0DVo7XVp7cm1rLzZsQtbWvbdLvwc130_provenance.
• NP6364.RA1UPqbocgDLr3XICbA5XFCDTpmJLzvY1V78NJ0KrsXok130_assertion description "[Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6364.RA1UPqbocgDLr3XICbA5XFCDTpmJLzvY1V78NJ0KrsXok130_provenance.
• NP6371.RA2q4ALd7HLcwDsdzkyV_ov8wRAZ2PseepMgBdo42vr0U130_assertion description "[Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6371.RA2q4ALd7HLcwDsdzkyV_ov8wRAZ2PseepMgBdo42vr0U130_provenance.
• NP6373.RA3Y1sI_FetOqDe1vpO05E9n-uDU2MgBAR9asCgeLAiu0130_assertion description "[Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6373.RA3Y1sI_FetOqDe1vpO05E9n-uDU2MgBAR9asCgeLAiu0130_provenance.
• NP6374.RA6srkX4C72v9FqSGVFDelZML1gzhj5gL0QLg9bewZe5U130_assertion description "[Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6374.RA6srkX4C72v9FqSGVFDelZML1gzhj5gL0QLg9bewZe5U130_provenance.
• NP6375.RA_F8dZDMDnhQMUIwCSA23mCme-wOXPk2-NyLVyC9SVPM130_assertion description "[SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6375.RA_F8dZDMDnhQMUIwCSA23mCme-wOXPk2-NyLVyC9SVPM130_provenance.
• NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_assertion description "[A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6384.RAzw-XjQmmK1uD4StG4sTlIT7gwV1335urFMlDKxVHahc130_provenance.
• NP6385.RA95Q0vz-QfKHI1l6tNRTo_FiZIUg-fYoCuDVE1Aeatcw130_assertion description "[Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6385.RA95Q0vz-QfKHI1l6tNRTo_FiZIUg-fYoCuDVE1Aeatcw130_provenance.
• NP6387.RAxjhiMG2HMjUQkiVuMhc3qLjUrCIna9K0kFJwyuU09vo130_assertion description "[Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6387.RAxjhiMG2HMjUQkiVuMhc3qLjUrCIna9K0kFJwyuU09vo130_provenance.
• NP6404.RA1oKUi-_CAMVP_l5l9Oh2MFFu6-KQnLcpM4korSbFdOQ130_assertion description "[A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6404.RA1oKUi-_CAMVP_l5l9Oh2MFFu6-KQnLcpM4korSbFdOQ130_provenance.
• NP6412.RA4tKdzbLwTYieWhoHTg3eMqD34yzq-H2tBkjqSKh1jYA130_assertion description "[The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6412.RA4tKdzbLwTYieWhoHTg3eMqD34yzq-H2tBkjqSKh1jYA130_provenance.
• NP6415.RA6EA_Wkgd1IVgi5chB-kTbc3CPUsWvpmayq_yyUoX_g8130_assertion description "[X-linked ichthyosis (XLI) is an inherited skin disorder due to deficiency of steroid sulfatase (STS) activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6415.RA6EA_Wkgd1IVgi5chB-kTbc3CPUsWvpmayq_yyUoX_g8130_provenance.
• NP6419.RA7rFVjpNVIMWxmZJf0HudYlDluWNjJT8lDgtJw71AIDo130_assertion description "[SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6419.RA7rFVjpNVIMWxmZJf0HudYlDluWNjJT8lDgtJw71AIDo130_provenance.
• NP6422.RA7X3lM1jeyoPmw_kjSliIa8urB2mN1BYt0u92uaj_n9U130_assertion description "[A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6422.RA7X3lM1jeyoPmw_kjSliIa8urB2mN1BYt0u92uaj_n9U130_provenance.
• NP6428.RA-FU_GQpTPyJgbUP3hEPmZVrxM5Nx__7_Cw29IvFOlwo130_assertion description "[Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6428.RA-FU_GQpTPyJgbUP3hEPmZVrxM5Nx__7_Cw29IvFOlwo130_provenance.
• NP6433.RA1FXmPKGlephQxhqbDIb6UzWkey3Zs2JOJzZ-BTRLG0o130_assertion description "[SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6433.RA1FXmPKGlephQxhqbDIb6UzWkey3Zs2JOJzZ-BTRLG0o130_provenance.
• NP6436.RA7lOaO-fWRjMlg2M7GXVSAYcJdw-gO_DjTMZP59QRHVA130_assertion description "[Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6436.RA7lOaO-fWRjMlg2M7GXVSAYcJdw-gO_DjTMZP59QRHVA130_provenance.
• NP6438.RA_RvRvVqVRUardWkA0Z6sHxs-UsHbe2J3YTSCuU-AGpg130_assertion description "[The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6438.RA_RvRvVqVRUardWkA0Z6sHxs-UsHbe2J3YTSCuU-AGpg130_provenance.
• NP6443.RAwQsNl7xQ9fCPcir9d45gbhR1fPeaDWh-fxSya6zO2kQ130_assertion description "[Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6443.RAwQsNl7xQ9fCPcir9d45gbhR1fPeaDWh-fxSya6zO2kQ130_provenance.
• NP6448.RA_-7PlyG_TC0sPEc981WjDnAeRByGCDBMhGtnE7kqJW0130_assertion description "[TDP-43 mutation in familial amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6448.RA_-7PlyG_TC0sPEc981WjDnAeRByGCDBMhGtnE7kqJW0130_provenance.
• NP6451.RA9B3vlCtDna_OaP29S_ifHSEzRn7CMRTdSZLPjj-UQ7M130_assertion description "[Mutations in the gene G4.5 result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including isolated left ventricular noncompaction (LVNC), as well as Barth syndrome (BTHS) with dilated cardiomyopathy (DCM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6451.RA9B3vlCtDna_OaP29S_ifHSEzRn7CMRTdSZLPjj-UQ7M130_provenance.
• NP6453.RA4vlARpwgpNd8HnF_j3_MvWR-Ii_Sx53JVFH7gLhNaO4130_assertion description "[The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6453.RA4vlARpwgpNd8HnF_j3_MvWR-Ii_Sx53JVFH7gLhNaO4130_provenance.
• NP6461.RAxSbAp6PW3DovfqkYIbbjFvzQagnaWXr1zgm3LyQ-wNk130_assertion description "[Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6461.RAxSbAp6PW3DovfqkYIbbjFvzQagnaWXr1zgm3LyQ-wNk130_provenance.
• NP6474.RA5IZnpYhRqo051Q5fIZm-JAX5RmZYwzzRMWx7DVIJl0Y130_assertion description "[Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6474.RA5IZnpYhRqo051Q5fIZm-JAX5RmZYwzzRMWx7DVIJl0Y130_provenance.
• NP6475.RAx-SHoCJ64u_tr25KKf0M_PE470uF5eLj68TvV0Cmsvk130_assertion description "[Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6475.RAx-SHoCJ64u_tr25KKf0M_PE470uF5eLj68TvV0Cmsvk130_provenance.
• NP6480.RA0V8ifNfqxlixUIzLqFTGtJi-QpNn7YkAtvhOMqCVlrk130_assertion description "[The mutational spectrum of human malignant autosomal recessive osteopetrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6480.RA0V8ifNfqxlixUIzLqFTGtJi-QpNn7YkAtvhOMqCVlrk130_provenance.
• NP6481.RAx0dbTcVTwPpgxkOvp06d5u641IrIUkjlr-NyB5kbeWI130_assertion description "[The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6481.RAx0dbTcVTwPpgxkOvp06d5u641IrIUkjlr-NyB5kbeWI130_provenance.
• NP6483.RA9n6d-xg4_KDrnhb_BP2YE5P0NoNhwERs467vLif0iMQ130_assertion description "[A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6483.RA9n6d-xg4_KDrnhb_BP2YE5P0NoNhwERs467vLif0iMQ130_provenance.
• NP6484.RAz0SjTirVBafH7nCuoB0XN5X9gC6xhvVd_vEWzWho_mo130_assertion description "[Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6484.RAz0SjTirVBafH7nCuoB0XN5X9gC6xhvVd_vEWzWho_mo130_provenance.
• NP6491.RA87zNuq8igjAUkYzIYbbAoPLdNv3B1PU7sZvvuWgTS6Q130_assertion description "[In several DFNA12 families mutations in TECTA, the gene encoding alpha-tectorin, were shown to cause hearing impairment (HI) with different phenotypes depending on the location of the mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6491.RA87zNuq8igjAUkYzIYbbAoPLdNv3B1PU7sZvvuWgTS6Q130_provenance.
• NP6499.RA4oPR44TKEJtGIK14wBJPDaoPTy3UhZy1nkz5rLJF5qk130_assertion description "[Our work shows that TFAP2B has a role in ductal, facial and limb development and suggests that Char syndrome results from derangement of neural-crest-cell derivatives.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6499.RA4oPR44TKEJtGIK14wBJPDaoPTy3UhZy1nkz5rLJF5qk130_provenance.
• NP6500.RA593pVI_hlCJ8zl_MfuTri03o8iZDsRLovZkTtwFwRps130_assertion description "[Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6500.RA593pVI_hlCJ8zl_MfuTri03o8iZDsRLovZkTtwFwRps130_provenance.
• NP6501.RA5wO4iGp63JtF-7nDHZB0FxB_Z1qwl6F6yMrHI4AAMP4130_assertion description "[The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6501.RA5wO4iGp63JtF-7nDHZB0FxB_Z1qwl6F6yMrHI4AAMP4130_provenance.

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