Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.L141P
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CYBB

NM_000397.4:p.L141P

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

Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.

Ko SH et al.

Immunological Investigations, 2014

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C et al.

Human Mutation, 2008

Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.

Oh HB et al.

Journal of Korean Medical Science, 2004

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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."