GeneticsbioRxivPreprint
p.D372H: A novel SCN5A mutation associated with Brugada syndrome
Xianghuan Xie, Yanghui Chen, Zhiqiang Li…·Guangzhi Chen
The paper identifies a novel SCN5A mutation, D372H, associated with Brugada syndrome and demonstrates its functional impact on sodium channel activity and expression.
DOI 10.1101/2025.01.29.635599