NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity
Alexander O. Ward, Nicole Schönrock, Alex J. McCann…·Richard Paul Harvey
The paper investigates NKX2-5 mutations in congenital heart disease by analyzing their epigenomic, biochemical, and chromatin search functions in cardiomyocytes, revealing diverse loss and gain-of-function defects.