Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.C369R
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CYBB

NM_000397.4:p.C369R

Associated Papers

Structure of the core human NADPH oxidase NOX2.

Noreng S et al.

Nature Communications, 2022

36241643 (PubMed )
Supplement: 41467_2022_33711_MOESM1_ESM.pdf

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

A Cys-Gly-Cys triad in the dehydrogenase region of Nox2 plays a key role in the interaction with p67phox.

Dahan I et al.

Journal of Leukocyte Biology, 2015

Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly.

Debeurme F et al.

The Journal of Biological Chemistry, 2010

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

Stasia MJ

Medecine Sciences : M/s, 2007

Severe X-linked chronic granulomatous disease in two unrelated females.

Chollet-Martin S et al.

European Journal of Pediatrics, 2007

A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.

Kuribayashi F et al.

Human Genetics, 1996

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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."