Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.L52P
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CYBB

NM_000397.4:p.L52P

Associated Papers

Targeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.

Wolff JH et al.

Nature Communications, 2025

40796771 (PubMed )
Supplement: 41467_2025_62738_MOESM1_ESM.pdf

Characterization of missense mutations in the NADPH oxidase partner p22phox in the A22° subtype of chronic granulomatous disease.

Kawai C et al.

Microbiology and Immunology, 2023

Regulation of Derlin-1-mediated degradation of NADPH oxidase partner p22phox by thiol modification.

Miyano K et al.

Redox Biology, 2022

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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."