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 |