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Article

Loss-of-function variants influence the human serum metabolome.

Science advances - 1 Aug 2016

Yu Bing, Li Alexander H, Metcalf Ginger A, Muzny Donna M, Morrison Alanna C, White Simon, Mosley Thomas H, Gibbs Richard A, Boerwinkle Eric

Abstract excerpt

The metabolome is a collection of small molecules resulting from multiple cellular and biological processes that can act as biomarkers of disease, and African-Americans exhibit high levels of genetic diversity. Exome sequencing of a sample of deeply phenotyped African-Americans allowed us to analyze the effects of annotated loss-of-function (LoF) mutations on 308 serum metabolites measured by untargeted liquid...

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Identifiers

PMID: 27602404
DOI: 10.1126/sciadv.1600800
PMCID: PMC5007069

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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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