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Article

The impact of genetically controlled splicing on exon inclusion and protein structure.

PloS one - 1 Jan 2024

Einson Jonah, Minaeva Mariia, Rafi Faiza, Lappalainen Tuuli

Abstract excerpt

Common variants affecting mRNA splicing are typically identified though splicing quantitative trait locus (sQTL) mapping and have been shown to be enriched for GWAS signals by a similar degree to eQTLs. However, the specific splicing changes induced by these variants have been difficult to characterize, making it more complicated to analyze the effect size and direction of sQTLs, and to determine downstream...

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Identifiers

PMID: 38478511
DOI: 10.1371/journal.pone.0291960
PMCID: PMC10936842

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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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