Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R204*
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GATA2

NM_032638.5:p.R204*

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 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.

Largeaud L et al.

Blood Cancer Journal, 2025

GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.

Rukerd MRZ et al.

Bmc Infectious Diseases, 2024

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis.

Huang X et al.

Frontiers in Immunology, 2023

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

GATA2 mutation with recurrent haemophagocytic lymphohistiocytosis and panniculitis: a case report.

Sun L et al.

Rheumatology (oxford, England), 2021

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

Germline Predisposition to Hematolymphoid Neoplasia.

Weinberg OK et al.

American Journal of Clinical Pathology, 2019

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Donadieu J et al.

Haematologica, 2018

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.

Mir MA et al.

Cancer Medicine, 2015

GATA family transcriptional factors: emerging suspects in hematologic disorders.

Gao J et al.

Experimental Hematology & Oncology, 2015

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Gao J et al.

Journal of Hematology & Oncology, 2014

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Pasquet M 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."