Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.C85fs
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GATA2

NM_032638.5:p.C85fs

Associated Papers

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

Roncareggi S et al.

Journal of Clinical Immunology, 2023

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Timely follow-up of a GATA2 deficiency patient allows successful treatment.

Ciullini Mannurita S et al.

The Journal of Allergy and Clinical Immunology, 2016

The evolution of cellular deficiency in GATA2 mutation.

Dickinson RE et al.

Blood, 2014

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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."