Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.S139insFs
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GATA2

NM_032638.5:p.S139insFs

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.

Barmettler S et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2022

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Elhabyan A et al.

Virus Research, 2020

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

Ganapathi KA et al.

Blood, 2015

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

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Mace EM et al.

Blood, 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."