Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy
Clinical genetics（2023）
摘要
Arrhythmogenic right ventricular cardiomyopathy caused by a homozygous frameshift variant (c.2358delA) in DSG2.
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关键词
DSG2,ARVC,exome sequencing,frameshift mutation,incomplete penetrance
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