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

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

Santiago M et al.

Cancers, 2023

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells.

Schlums H et al.

Blood, 2017

The evolution of cellular deficiency in GATA2 mutation.

Dickinson RE et al.

Blood, 2014

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H et al.

British Journal of Haematology, 2012

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Dickinson RE et al.

Blood, 2011

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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."