Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.L339_S340Splc
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GATA2

NM_032638.5:p.L339_S340Splc

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

Generalized verrucosis caused by various human papillomaviruses in a patient with GATA2 deficiency.

Kuriyama Y et al.

The Journal of Dermatology, 2018

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

Keel SB et al.

Haematologica, 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."