Population structure analysis on 2504 individuals across 26 ancestries using bioinformatics approaches
نویسندگان
چکیده
منابع مشابه
Comparative Analysis across Approaches
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Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome....
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2015
ISSN: 1471-2105
DOI: 10.1186/1471-2105-16-s15-p19