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Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy
BackgroundFamilial dilated cardiomyopathy (DCM) is a genetic cardiomyopathy that is associated with reduced left ventricle function or systolic function. Fifty-one DCM-causative genes have been reported, most of which are inherited in an autosomal dominant manner. However, recessive DCM-causative gene is rarely observed.MethodsWhole-exome sequencing (WES) was performed in a consanguineous family with DCM to identify candidate variants. Sanger sequencing was utilized to confirm the variant. Wedoi:10.21203/rs.3.rs-1693689/v1 fatcat:6qxq2gy73nfwhanyvdywzg7ceu