Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.D367insFs
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GATA2

NM_032638.5:p.D367insFs

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Oleaga-Quintas C et al.

Journal of Clinical Immunology, 2021

Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.

Shen Y et al.

Infection and Drug Resistance, 2021

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

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

Hsu AP 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."