Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R362G
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GATA2

NM_032638.5:p.R362G

Associated Papers

GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.

Largeaud L et al.

Blood Cancer Journal, 2025

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

Roncareggi S et al.

Journal of Clinical Immunology, 2023

Dactinomycin induces complete remission associated with nucleolar stress response in relapsed/refractory NPM1-mutated AML.

Gionfriddo I et al.

Leukemia, 2021

Longitudinal targeted next-generation sequencing in a patient with acute myeloid leukaemia.

Velu PD et al.

British Journal of Haematology, 2019

Polymorphisms in IGF-binding protein 1 are associated with impaired renal function in type 2 diabetes.

Stephens RH et al.

Diabetes, 2005

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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."