Article

Identification and Functional Characterization of Bicaudal-D2 As A Candidate Disease Gene in Autosomal Recessive Consanguineous Family with Dilated Cardiomyopathy

2022-02-04

Abstract excerpt

Familial Dilated cardiomyopathy (DCM) is a genetic cardiomyopathy with reduced left ventricle function or systolic function. Fifty-one DCM genes have been reported, most of which are inherited in an autosomal dominant manner, while those caused by a recessive manner are rarely observed. Here we identified an autosome recessive and evolutionarily conserved missense variant, c.2429G>A: p.Arg810His, in bicaudal D hom...

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Literature Corpus work: 4439450c-0ead-5fed-b38e-3298af8b75c7
DOI: 10.1101/2022.02.03.22269864

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