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Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels. (2025)

First Author: Hawkes G

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/s41588-025-02095-4

PubMed Identifier: 39994471

Publication URI: http://europepmc.org/abstract/MED/39994471

Type: Journal Article/Review

Parent Publication: Nature genetics

ISSN: 1061-4036