Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.L375F
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GATA2

NM_032638.5:p.L375F

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Bresnick EH et al.

Blood Advances, 2020

Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists.

Gao J et al.

Archives of Pathology & Laboratory Medicine, 2019

Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation.

McReynolds LJ et al.

Leukemia Research Reports, 2019

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

Ganapathi KA et al.

Blood, 2015

Generalized verrucosis in a patient with GATA2 deficiency.

West ES et al.

The British Journal of Dermatology, 2014

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

West RR et al.

Haematologica, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."