Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
作者： Gloria T. Haskell , Brian C. Jensen , Leigh Ann Samsa , Daniel Marchuk , Wei Huang
DOI: 10.1161/CIRCGENETICS.116.001443
关键词:
摘要: … We used whole exome sequencing to detect pathogenic variants in 55 patients with suspected monogenic forms of cardiovascular disease. Diagnostic analysis of established disease …
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