Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.G346fs
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GATA2

NM_032638.5:p.G346fs

Associated Papers

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Oleaga-Quintas C et al.

Journal of Clinical Immunology, 2021

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

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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."