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Article

Biomedical impact of splicing mutations revealed through exome sequencing.

Molecular medicine (Cambridge, Mass.) - 30 Mar 2012

Taneri Bahar, Asilmaz Esra, Gaasterland Terry

Abstract excerpt

Splicing is a cellular mechanism, which dictates eukaryotic gene expression by removing the noncoding introns and ligating the coding exons in the form of a messenger RNA molecule. Alternative splicing (AS) adds a major level of complexity to this mechanism and thus to the regulation of gene expression. This widespread cellular phenomenon generates multiple messenger RNA isoforms from a single gene, by utilizing...

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Identifiers

PMID: 22160217
DOI: 10.2119/molmed.2011.00126
PMCID: PMC3324954

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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