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Article

Spliceosomopathies: Diseases and mechanisms.

Developmental dynamics : an official publication of the American Association of Anatomists - 1 Sept 2020

Griffin Casey, Saint-Jeannet Jean-Pierre

Abstract excerpt

The spliceosome is a complex of RNA and proteins that function together to identify intron-exon junctions in precursor messenger-RNAs, splice out the introns, and join the flanking exons. Mutations in any one of the genes encoding the proteins that make up the spliceosome may result in diseases known as spliceosomopathies. While the spliceosome is active in all cell types, with the majority of the proteins...

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Identifiers

PMID: 32506634
DOI: 10.1002/dvdy.214
PMCID: PMC8603363

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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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