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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GATA2

Variant:p.A345_G346insFs

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GATA2

NM_032638.5:p.A345_G346insFs

hg38:chr3:128481927 G>GGGCCAGA

Associated Papers

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

34387894 (PubMed )

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

Oleaga-Quintas C et al.

Journal of Clinical Immunology, 2021

33417088 (PubMed )

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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."