Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.A342insFs
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GATA2

NM_032638.5:p.A342insFs

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 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Genetic Causes of Human NK Cell Deficiency and Their Effect on NK Cell Subsets.

Mace EM et al.

Frontiers in Immunology, 2016

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Mace EM et al.

Blood, 2013

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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."