Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot
Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Elisavet Fotiou, Richard M. Monaghan, Heather Jane Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert J. M. Eveleigh, Sally L. Dunwoodie, David Scott Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, , Bernard D. Keavney
The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.
bioRxiv · Apr 13, 2018 · PreprintGenetics