Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.N371K
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GATA2

NM_032638.5:p.N371K

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

Identification and prediction of molecular factors associated with ischemic stroke: an integrative analysis of DEGs, TFs, and PPI networks.

Radak M et al.

In Vitro Models, 2023

The spectrum of GATA2 deficiency syndrome.

Calvo KR et al.

Blood, 2023

Clinical, Imaging, and Laboratory Findings in Patients With GATA2 Deficiency Presenting With Early-Onset Ischemic Stroke.

Bierman-Chow S et al.

Neurology, 2023

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.

Nakazawa H et al.

International Journal of Hematology, 2021

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

Bresnick EH et al.

Blood Advances, 2020

Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Rao A et al.

Bmc Medical Genomics, 2018

29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.

Sologuren I et al.

Journal of Clinical Immunology, 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

Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

Grossman J et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2014

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

Spinner MA et al.

Blood, 2014

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

West RR et al.

Haematologica, 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

Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies.

Bresnick EH et al.

Nucleic Acids Research, 2012

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H et al.

British Journal of Haematology, 2012

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Hsu AP 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."