Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.C349Y
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GATA2

NM_032638.5:p.C349Y

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

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

Roncareggi S et al.

Journal of Clinical Immunology, 2023

Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.

Shen Y et al.

Infection and Drug Resistance, 2021

Humoral deficiency in a novel GATA2 mutation: A new clinical presentation successfully treated with hematopoietic stem cell transplantation.

Portich JP et al.

Pediatric Blood & Cancer, 2020

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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."