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Article

Loss-of-function variants in the genomes of healthy humans.

Human molecular genetics - 15 Oct 2010

MacArthur Daniel G, Tyler-Smith Chris

Abstract excerpt

Genetic variants predicted to seriously disrupt the function of human protein-coding genes-so-called loss-of-function (LOF) variants-have traditionally been viewed in the context of severe Mendelian disease. However, recent large-scale sequencing and genotyping projects have revealed a surprisingly large number of these variants in the genomes of apparently healthy individuals--at least 100 per genome, including...

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Identifiers

PMID: 20805107
DOI: 10.1093/hmg/ddq365
PMCID: PMC2953739

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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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