Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.S447R
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GATA2

NM_032638.5:p.S447R

Associated Papers

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.

Yu S et al.

Cancer Reports (hoboken, N.j.), 2024

A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.

West RR et al.

Blood Advances, 2023

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

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

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Impairment of the Hypothalamus-Pituitary-Thyroid Axis Caused by Naturally Occurring GATA2 Mutations In Vitro.

Sakai Y et al.

International Journal of Molecular Sciences, 2021

Acute myeloid leukemia associated with a novel GATA2 mutation: a case report and the importance to identify GATA2 haplodeficiency.

Mendes-de-Almeida DP et al.

Leukemia & Lymphoma, 2020

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Bresnick EH et al.

Blood Advances, 2020

Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study.

Haddox CL et al.

Leukemia & Lymphoma, 2019

Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

Mangaonkar AA et al.

Mayo Clinic Proceedings, 2019

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.

Al Seraihi AF et al.

Leukemia, 2018

29749400 (PubMed )
Supplement: 41375_2018_134_MOESM1_ESM.pdf

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

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

Mir MA et al.

Cancer Medicine, 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."