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Article

Spliceosomal factor mutations and mis-splicing in MDS.

Best practice & research. Clinical haematology - 1 Sept 2020

Hershberger Courtney E, Daniels Noah J, Padgett Richard A

Abstract excerpt

Somatic, heterozygous missense and nonsense mutations in at least seven proteins that function in the spliceosome are found at high frequency in MDS patients. These proteins act at various steps in the process of splicing by the spliceosome and lead to characteristic alterations in the alternative splicing of a subset of genes. Several studies have investigated the effects of these mutations and have attempted to...

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Identifiers

PMID: 33038983
DOI: 10.1016/j.beha.2020.101199
PMCID: PMC8078562

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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