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Article

RNA mis-splicing in disease.

Nature reviews. Genetics - 1 Jan 2016

Scotti Marina M, Swanson Maurice S

Abstract excerpt

The human transcriptome is composed of a vast RNA population that undergoes further diversification by splicing. Detecting specific splice sites in this large sequence pool is the responsibility of the major and minor spliceosomes in collaboration with numerous splicing factors. This complexity makes splicing susceptible to sequence polymorphisms and deleterious mutations. Indeed, RNA mis-splicing underlies a...

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Identifiers

PMID: 26593421
DOI: 10.1038/nrg.2015.3
PMCID: PMC5993438

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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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