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Article

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

Nature communications - 24 Apr 2018

DeBoever Christopher, Tanigawa Yosuke, Lindholm Malene E, McInnes Greg, Lavertu Adam, Ingelsson Erik, Chang Chris, Ashley Euan A, Bustamante Carlos D, Daly Mark J, Rivas Manuel A

Abstract excerpt

Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed. Here, we characterize the effect of 18,228 protein-truncating variants across 135 phenotypes from the UK Biobank and find 27 associations between medical phenotypes and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29691392
DOI: 10.1038/s41467-018-03910-9
PMCID: PMC5915386

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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