Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.H209Y
Back to variants list

CYBB

NM_000397.4:p.H209Y

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

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

Kawai T et al.

Journal of Clinical Immunology, 2015

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.

Martel C et al.

Journal of Clinical Immunology, 2012

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

[Chronic granulomatous disease (CGD)].

Shibata A

Ryoikibetsu Shokogun Shirizu, 1998

[Chronic granulomatous disease (CGD)].

Takikawa K et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."