Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.V204A
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CYBB

NM_000397.4:p.V204A

Associated Papers

Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox.

Roos D et al.

Journal of Clinical & Cellular Immunology, 2014

Direct involvement of the small GTPase Rac in activation of the superoxide-producing NADPH oxidase Nox1.

Miyano K et al.

The Journal of Biological Chemistry, 2006

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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."