Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.A430V
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GATA2

NM_032638.5:p.A430V

Associated Papers

Unusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report.

Echols TC et al.

American Journal of Medical Genetics. Part A, 2025

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

Bresnick EH et al.

Blood Advances, 2020

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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."