A non-coding SCN5A variant that reduces sodium channel function in hiPSC-derived cardiomyocytes is significantly enriched in Brugada syndrome patients from Thailand
Event:
ESC Congress 2023
Topic:
Genetic Aspects of Arrhythmias
Session:
Pathophysiology and mechanisms of cardiac arrhythmias
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of 5182 cases from long QT syndrome and Brugada syndrome consortia cohorts and gnomAD population controls