Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.R54S
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CYBB

NM_000397.4:p.R54S

Associated Papers

Structure of the core human NADPH oxidase NOX2.

Noreng S et al.

Nature Communications, 2022

Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.

Wang S et al.

Journal of Clinical Immunology, 2019

Erratum to: Clinical and Molecular Features of 38 Children with Chronic Granulomatous Disease in Mainland China.

Xu H et al.

Journal of Clinical Immunology, 2017

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

[Clinical features of chronic granulomatous disease].

Ying WJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

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

The NADPH oxidase: lessons from chronic granulomatous disease neutrophils.

Verhoeven AJ

Annals of the New York Academy of Sciences, 1997

[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."