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Article

In Brief: (mis)splicing in disease.

The Journal of pathology - 1 May 2014

Pedrotti Simona, Cooper Thomas A

Abstract excerpt

Splicing of pre-mRNAs is a crucial step in the gene expression pathway. Disruption of splicing has been linked to the pathogenesis of several human diseases and is particularly widespread in cancer. Recently, a number of mutations affecting genes of the core spliceosome machinery have been identified in haematological malignancies, yet the effect of such mutations on RNA splicing is unclear. A better...

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Identifiers

PMID: 24615176
DOI: 10.1002/path.4337
PMCID: PMC4300095

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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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