Rare genetic variants in dominant developmental disorder loci cause milder related phenotypes in the general population (2021)

First Author: Kingdom R

Attributed to: Assessing the pathogenicity, penetrance and expressivity of monogenic disease variants using large-scale population-based cohorts funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1101/2021.12.15.21267855

Publication URI: http://dx.doi.org/10.1101/2021.12.15.21267855

Type: Preprint