Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R361_N365del0
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GATA2

NM_032638.5:p.R361_N365del0

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.

West RR et al.

Blood Advances, 2022

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 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

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

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."