The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans

Authors: Minna Ampuja, Sabina Ericsson, Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman, Martin Broberg, Amanda Ramste, Diego Balboa, Tiina Ojala, Jessica X. Chong, Michael J. Bamshad, James R. Priest, Markku Varjosalo, Riikka Kivelä, Emmi Helle

Journal: Human Genetics and Genomics Advances

Year: 2025

DOI: https://doi.org/10.1016/j.xhgg.2025.100446