Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.H111R
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CYBB

NM_000397.4:p.H111R

Associated Papers

Structure of the core human NADPH oxidase NOX2.

Noreng S et al.

Nature Communications, 2022

36241643 (PubMed )
Supplement: 41467_2022_33711_MOESM1_ESM.pdf

Severe and Rapid Progression in Very Early-Onset Chronic Granulomatous Disease-Associated Colitis.

Kawai T et al.

Journal of Clinical Immunology, 2015

A case of macrophage activation syndrome developing in a patient with chronic granulomatous disease-associated colitis.

Akagi K et al.

Journal of Pediatric Hematology/oncology, 2014

Heme-ligating histidines in flavocytochrome b(558): identification of specific histidines in gp91(phox).

Biberstine-Kinkade KJ et al.

The Journal of Biological Chemistry, 2001

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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."