Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.R130Q
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CYBB

NM_000397.4:p.R130Q

Associated Papers

Structure of human phagocyte NADPH oxidase in the resting state.

Liu R et al.

Elife, 2022

A Novel CYBB Variant Causing X-Linked Chronic Granulomatous Disease in a Patient with Empyema.

Kitcharoensakkul M et al.

Journal of Clinical Immunology, 2021

Genetic disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Identification of NOX2 regions for normal biosynthesis of cytochrome b558 in phagocytes highlighting essential residues for p22phox binding.

Beaumel S et al.

The Biochemical Journal, 2014

Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

Hill HR et al.

The Journal of Molecular Diagnostics : Jmd, 2010

[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."