GeneticsHuman Genetics and Genomics AdvancesPeer-reviewed
Functional characterization of QT interval associated SCN5A enhancer variants identify combined additive effects
Lavanya Gunamalai, Parul Singh, Brian Berg…·Ashish Kapoor
The paper investigates the combined effects of SCN5A enhancer variants on gene expression and demonstrates their additive regulatory impact in vitro and in vivo.