Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.C349S
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GATA2

NM_032638.5:p.C349S

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_MOESM3_ESM.xlsx › Sheet1

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.

Al Seraihi AF et al.

Leukemia, 2018

29749400 (PubMed )
Supplement: 41375_2018_134_MOESM1_ESM.pdf
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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."