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Article

Variants affecting exon skipping contribute to complex traits.

PLoS genetics - 1 Jan 2012

Lee Younghee, Gamazon Eric R, Rebman Ellen, Lee Yeunsook, Lee Sanghyuk, Dolan M Eileen, Cox Nancy J, Lussier Yves A

Abstract excerpt

DNA variants that affect alternative splicing and the relative quantities of different gene transcripts have been shown to be risk alleles for some Mendelian diseases. However, for complex traits characterized by a low odds ratio for any single contributing variant, very few studies have investigated the contribution of splicing variants. The overarching goal of this study is to discover and characterize the role...

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Identifiers

PMID: 23133393
DOI: 10.1371/journal.pgen.1002998
PMCID: PMC3486879

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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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