Publication 4927
Title:Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries
Journal:Hum Mutat
Published:1 Aug 2021
Pubmed:https://pubmed.ncbi.nlm.nih.gov/34005834/
DOI:https://doi.org/10.1002/humu.24220