Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.P56L
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CYBB

NM_000397.4:p.P56L

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

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

Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease.

Jakobsen MA et al.

Scandinavian Journal of Immunology, 2012

Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase.

Picciocchi A et al.

The Journal of Biological Chemistry, 2011

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

The NADPH oxidase: lessons from chronic granulomatous disease neutrophils.

Verhoeven AJ

Annals of the New York Academy of Sciences, 1997

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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."