Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.S122C
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GATA2

NM_032638.5:p.S122C

Associated Papers

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

Bresnick EH et al.

Blood Advances, 2020

Spotlight on the transglutaminase 2 gene: a focus on genomic and transcriptional aspects.

Bianchi N et al.

The Biochemical Journal, 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."