Functional characterization of QT interval associated SCN5A enhancer variants identify combined additive effects
Lavanya Gunamalai, Parul Singh, Brian Berg, Leilei Shi, Ernesto Sanchez, Alexa Smith, Ghislaı̀n Breton, Mark T. Bedford, Darius Balciunas, 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.
Human Genetics and Genomics Advances · Sep 30, 2024Peer-reviewedGenetics