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Article

Splicing in disease: disruption of the splicing code and the decoding machinery.

Nature reviews. Genetics - 1 Oct 2007

Wang Guey-Shin, Cooper Thomas A

Abstract excerpt

Human genes contain a dense array of diverse cis-acting elements that make up a code required for the expression of correctly spliced mRNAs. Alternative splicing generates a highly dynamic human proteome through networks of coordinated splicing events. Cis- and trans-acting mutations that disrupt the splicing code or the machinery required for splicing and its regulation have roles in various diseases, and recent...

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PMID: 17726481
DOI: 10.1038/nrg2164

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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