Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing.
Ming-Bao RenXiao-Rui ChaiLin LiXin WangChenghong YinPublished in: Molecular genetics & genomic medicine (2020)
We added the notion that not only p.Ile736Thr variant of MYH7, but also TNNI3 deletion might potentially contribute to HCM pathogenesis. Our study also suggested WES was a powerful tool to identify the genetic variants causing HCM.