Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.T347I
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GATA2

NM_032638.5:p.T347I

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

Next-generation sequencing in familial breast cancer patients from Lebanon.

Jalkh N et al.

Bmc Medical Genomics, 2017

Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family.

Perez Botero J et al.

Platelets, 2016

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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."