Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.L365P
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CYBB

NM_000397.4:p.L365P

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 the core human NADPH oxidase NOX2.

Noreng S et al.

Nature Communications, 2022

36241643 (PubMed )
Supplement: 41467_2022_33711_MOESM1_ESM.pdf

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Bustamante J et al.

Nature Immunology, 2011

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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."