Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.K405N
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GATA2

NM_032638.5:p.K405N

Associated Papers

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

Kotmayer 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

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Jørgensen SF et al.

Journal of Clinical Immunology, 2022

When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis.

Saettini F et al.

Pediatric Hematology and Oncology, 2021

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Lindqvist CM et al.

Oncotarget, 2016

27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations
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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."