Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.
Yunqian ZhangRui PengHong-Yan WangPublished in: Molecular genetics & genomic medicine (2022)
Overall, our findings suggest that MYL2 p.Ile158Thr and p.Val146Met contribute to the etiology of CHD. The results also indicate the importance of MYL2 in heart formation.