Title: | Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes |
Journal: | Nat Commun |
Published: | 9 Jun 2021 |
Pubmed: | https://pubmed.ncbi.nlm.nih.gov/34108472/ |
DOI: | https://doi.org/10.1038/s41467-021-23556-4 |