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Article

Exon identity crisis: disease-causing mutations that disrupt the splicing code.

Genome biology - 23 Jan 2014

Sterne-Weiler Timothy, Sanford Jeremy R

Abstract excerpt

Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24456648
DOI: 10.1186/gb4150
PMCID: PMC4053859

Provenance

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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