Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.G268*
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GATA2

NM_032638.5:p.G268*

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

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

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.

West RR et al.

Blood Advances, 2022

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

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

Bi L et al.

Oncology Letters, 2021

Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing.

Shen W et al.

Journal of Clinical Pathology, 2018

Heterogeneity of GATA2-related myeloid neoplasms.

Hirabayashi S et al.

International Journal of Hematology, 2017

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Wlodarski MW et al.

Blood, 2016

GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.

Wang X et al.

Haematologica, 2015

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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."