Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.C59R
Back to variants list

CYBB

NM_000397.4:p.C59R

Associated Papers

First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.

Bhattarai D et al.

Journal of Clinical Immunology, 2024

Case report: HLA-haploidentical HSCT rescued with donor lymphocytes infusions in a patient with X-linked chronic granulomatous disease.

Scheiermann J et al.

Frontiers in Immunology, 2023

Structure of the core human NADPH oxidase NOX2.

Noreng S et al.

Nature Communications, 2022

36241643 (PubMed )
Supplement: 41467_2022_33711_MOESM1_ESM.pdf

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

Gérard B et al.

Human Mutation, 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."