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Genetic modifiers of rare variants in monogenic developmental disorder loci. (2024)

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/10.1038/s41588-024-01710-0

PubMed Identifier: 38637616

Publication URI: http://europepmc.org/abstract/MED/38637616

Type: Journal Article/Review

Volume: 56

Parent Publication: Nature genetics

Issue: 5

ISSN: 1061-4036