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Article

Distinct and convergent consequences of splice factor mutations in myelodysplastic syndromes.

American journal of hematology - 1 Feb 2020

Madan Vikas, Li Jia, Zhou Siqin, Teoh Weoi Woon, Han Lin, Meggendorfer Manja, Malcovati Luca, Cazzola Mario, Ogawa Seishi, Haferlach Torsten, Yang Henry, Koeffler H Phillip

Abstract excerpt

Myelodysplastic syndromes (MDS) are characterized by recurrent somatic alterations often affecting components of RNA splicing machinery. Mutations of splice factors SF3B1, SRSF2, ZRSR2 and U2AF1 occur in >50% of MDS. To assess the impact of spliceosome mutations on splicing and to identify common pathways/genes affected by distinct mutations, we performed RNA-sequencing of MDS bone marrow samples harboring...

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PMID: 31680297
DOI: 10.1002/ajh.25673

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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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