Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance (2023)

First Author: Beaumont 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/10.1101/2023.10.11.23296535

Publication URI: http://dx.doi.org/10.1101/2023.10.11.23296535

Type: Preprint