In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.

Hung Manh PhamDuy Phuong NguyenThanh Dat TaThi Phuong LePhong Hai PhanHoai An TrinhTuan Viet TranThi Lan Anh LuongHa Minh NguyenThe-Hung BuiThinh Huy TranThanh Van TaVan-Khanh Tran

Published in: Molecular genetics & genomic medicine (2023)

The results contribute to clarifying the impact of SCN5A variants on these phenotypes. Further follow-up studies need to be carried out to understand the functional effects of these SCN5A variants on the severity of BrS.

Keyphrases

copy number
molecular docking
case report
gene expression