Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.C244Y
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CYBB

NM_000397.4:p.C244Y

Associated Papers

Optimizing the diagnosis of chronic granulomatous disease using dihydrorhodamine-123 assay: Lessons from a large monocentric cohort.

Oiuna L et al.

Cytometry. Part B, Clinical Cytometry, 2026

Structure of human phagocyte NADPH oxidase in the resting state.

Liu R et al.

Elife, 2022

Hypersensitive Pneumonitis: an Initial Presentation of Chronic Granulomatous Disease in a Child.

Liu H et al.

Journal of Clinical Immunology, 2018

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

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.

Patiño PJ et al.

Human Mutation, 1999

[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."