Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.A191V
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GATA2

NM_032638.5:p.A191V

Associated Papers

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

Bresnick EH et al.

Blood Advances, 2020

Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.

Wu Z et al.

Blood Advances, 2020

Germline Genetic Predisposition to Myeloid Neoplasia From GATA2 Gene Mutations: Lessons Learned From Two Cases.

Abou Dalle I et al.

Jco Precision Oncology, 2019

Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.

Yi Z et al.

Scientific Reports, 2017

28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf

Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells.

Schlums H et al.

Blood, 2017

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

Churpek JE et al.

Blood, 2015

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

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."