Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.T387N
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GATA2

NM_032638.5:p.T387N

Associated Papers

GATA2 at 14: genotype-phenotype correlations.

Hsu AP et al.

Haematologica, 2026

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM5_ESM.xlsx › Sheet1

Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Huang F et al.

Scientific Reports, 2022

35688842 (PubMed )
Supplement: 41598_2022_13391_MOESM5_ESM.xlsx › NGS_data

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

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

Bresnick EH et al.

Blood Advances, 2020

[Clinical and molecular characteristics of GATA2 related pediatric primary myelodysplastic syndrome].

An WB et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2019

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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."