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1 A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency [期刊论文]

来源：BMC Medical Genetics

作者:M. Bozzola;E. Bozzola;I. Fusco;等

关键词:Intellectual disability;Pituitary hormone deficiency;...

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2 Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population [期刊论文]

来源：BMC Medical Genetics

作者:Weiping Teng;Zhongyan Shan;Hongmei Zhang;等

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3 Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin [期刊论文]

来源：BMC Medical Genetics

作者:Euan A. Ashley;Kathleen M. Ruppel;James A. Spudich;等

关键词:Gene mutation;Calcium;...

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4 Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease [期刊论文]

来源：BMC Medical Genetics

作者:Christopher G. Proud, Noel C. Wortham

关键词:VWM;EIF2B1;...

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5 An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 [期刊论文]

来源：BMC Medical Genetics

作者:Alfredo Brusco;Xiuqing Zhang;Hakon Hakonarson;等

关键词:Myoclonus;Autosomal recessive ataxia;...

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6 NPHS2 mutations account for only 15 % of nephrotic syndrome cases [期刊论文]

来源：BMC Medical Genetics

作者:Maricilda P. De Mello;Gil Guerra-Junior;Vera MS Belangero;等

关键词:WT1;NPHS1;...

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