Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R361H
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GATA2

NM_032638.5:p.R361H

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

Identification of Genetic Variants Using Next-Generation Sequencing in Pediatric Myelodysplastic Syndrome: From Disease Biology to Clinical Applications.

Lovatel VL et al.

International Journal of Molecular Sciences, 2025

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_MOESM6_ESM.xlsx › Sheet1

Chromosome 9p trisomy increases stem cells clonogenic potential and fosters T-cell exhaustion in JAK2-mutant myeloproliferative neoplasms.

Carretta C et al.

Leukemia, 2024

39179669 (PubMed )
Supplement: 41375_2024_2373_MOESM2_ESM.xlsx › CO480.designSummary

GATA2 mutant variant allele frequency may reflect prognosis in Chinese adult patients with de novo cytogenetically normal acute myeloid leukemia.

Ren H et al.

Biomolecules & Biomedicine, 2024

Genetic Characteristics of Patients with Young-Onset Myelodysplastic Neoplasms.

Kim HY et al.

Journal of Clinical Medicine, 2023

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

Santiago M et al.

Cancers, 2023

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Zerella JR et al.

Frontiers in Oncology, 2023

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

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

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Single Center Experience With Pediatric Patients With GATA2 Deficiency.

Ovsyannikova G et al.

Frontiers in Pediatrics, 2022

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.

McReynolds LJ et al.

Leukemia Research, 2019

GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells.

Jung M et al.

Blood Advances, 2018

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

Donadieu J et al.

Haematologica, 2018

Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.

Parta M et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2018

Incidental detection of germline variants of potential clinical significance by massively parallel sequencing in haematological malignancies.

Yannakou CK et al.

Journal of Clinical Pathology, 2018

Case of Basal Cell Carcinoma of the Prostate Successfully Treated Before and After a BRCA2 Reversion Mutation.

Grossman JE et al.

Jco Precision Oncology, 2018

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM9_ESM.xlsx › Sup._T6_-_TSCA_calls

Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders.

Burroughs LM et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2017

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

Wlodarski MW et al.

Blood, 2016

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

Ganapathi KA et al.

Blood, 2015

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Zhang MY et al.

Haematologica, 2015

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

West RR et al.

Haematologica, 2014

GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis.

Fasan A et al.

Leukemia, 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."