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Article

Context-dependent robustness to 5' splice site polymorphisms in human populations.

Human molecular genetics - 15 Mar 2011

Lu Zhi-xiang, Jiang Peng, Cai James J, Xing Yi

Abstract excerpt

There has been growing evidence for extensive diversity of alternative splicing in human populations. Genetic variants within the 5' splice site can cause splicing differences among human individuals and constitute an important class of human disease mutations. In this study, we explored whether natural variations of splicing could reveal important signals of 5' splice site recognition. In seven lymphoblastoid...

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Identifiers

PMID: 21224255
DOI: 10.1093/hmg/ddq553
PMCID: PMC3043661

Genes

TRIM62

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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