Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.A57E
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CYBB

NM_000397.4:p.A57E

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

Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.

Rawat A et al.

Frontiers in Immunology, 2021

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

[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."