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Article

Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes.

Nature communications - 12 Dec 2022

Wendt Frank R, Pathak Gita A, Polimanti Renato

Abstract excerpt

When present in coding regions, tandem repeats (TRs) may have large effects on protein structure and function contributing to health and disease. We use a family-based design to identify de novo TRs and assess their impact at the population level in 148,607 European ancestry participants from the UK Biobank. The 427 loci with de novo TR mutations are enriched for targets of microRNA-184 (21.1-fold,...

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Identifiers

PMID: 36509785
DOI: 10.1038/s41467-022-35423-x
PMCID: PMC9744822

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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