Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.

Link: https://doi.org/10.1002/humu.24220
Authors: Forrest, Iain S; Chaudhary, Kumardeep; Vy, Ha My T; Bafna, Shantanu; Kim, Soyeon; Won, Hong-Hee; Loos, Ruth J F; Cho, Judy; Pasquale, Louis R; Nadkarni, Girish N; Rocheleau, Ghislain; Do, Ron

Abstract: