Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.C244S
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CYBB

NM_000397.4:p.C244S

Associated Papers

Structure of human phagocyte NADPH oxidase in the resting state.

Liu R et al.

Elife, 2022

Structure of the core human NADPH oxidase NOX2.

Noreng S et al.

Nature Communications, 2022

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

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

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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."