Article
Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
Clinical genetics - 1 Jan 2017
Paludan-Müller C, Ahlberg G, Ghouse J, Herfelt C, Svendsen J H, Haunsø S, Kanters J K, Olesen M S
Abstract excerpt
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a highly lethal cardiac arrhythmia disease occurring during exercise or psychological stress. CPVT has an estimated prevalence of 1:10,000 and has mainly been associated with variants in calcium-regulating genes. Identification of potential false-positive pathogenic variants was conducted by searching the Exome Aggregation Consortium (ExAC) database...
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