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Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance (2024)

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/10.1186/s13073-024-01333-4

Publication URI: http://dx.doi.org/10.1186/s13073-024-01333-4

Type: Journal Article/Review

Parent Publication: Genome Medicine

Issue: 1