Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.R54M
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CYBB

NM_000397.4:p.R54M

Associated Papers

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Monocyte/macrophage-specific NADPH oxidase contributes to antimicrobial host defense in X-CGD.

Okura Y et al.

Journal of Clinical Immunology, 2015

Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase.

Picciocchi A et al.

The Journal of Biological Chemistry, 2011

[The X+ chronic granulomatous disease as a fabulous model to study the NADPH oxidase complex activation].

Stasia MJ

Medecine Sciences : M/s, 2007

[Chronic granulomatous disease (CGD)].

Shibata A

Ryoikibetsu Shokogun Shirizu, 1998

[Chronic granulomatous disease (CGD)].

Takikawa K et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977

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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."