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Article

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

Haematologica - 1 Feb 2014

West Robert R, Hsu Amy P, Holland Steven M, Cuellar-Rodriguez Jennifer, Hickstein Dennis D

Abstract excerpt

Inherited or sporadic heterozygous mutations in the transcription factor GATA2 lead to a clinical syndrome characterized by non-tuberculous mycobacterial and other opportunistic infections, a severe deficiency in monocytes, B cells and natural killer cells, and progression from a hypocellular mye...

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Source

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Identifiers

PMID: 24077845
DOI: 10.3324/haematol.2013.090217
PMCID: PMC3912957

Genes

GATA2
ASXL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24077845-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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