Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.A286V
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GATA2

NM_032638.5:p.A286V

Associated Papers

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Saygin C et al.

Blood Advances, 2023

36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.pdf

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

DeRoin L et al.

Human Mutation, 2022

35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Germline predisposition to hematopoietic malignancies.

Feurstein S et al.

Human Molecular Genetics, 2021

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

Bresnick EH et al.

Blood Advances, 2020

Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.

Drazer MW et al.

Blood Advances, 2018

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.

Guidugli L et al.

Leukemia, 2017

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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."