SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.
Shi J, Pan X, Wang Z, Yi M, Xie S, Zhang X, Tao D, Yang Y, Liu Y. Gene. 2024 Mar 10; 898:148093. Epub 2023 Dec 19.