Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R287H
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GATA2

NM_032638.5:p.R287H

Associated Papers

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM5_ESM.xlsx › Sheet1

The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease's phenotype.

Sobieralski P et al.

Frontiers in Oncology, 2023

37671053 (PubMed )
Supplement: Table_1.xlsx › ST1

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

Bresnick EH et al.

Blood Advances, 2020

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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."