Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.R54G
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CYBB

NM_000397.4:p.R54G

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

X-linked Chronic Granulomatous Disease Presenting with Mediastinal Lipoblastoma and Adjacent Pneumonia.

Bigley TM et al.

Journal of Clinical Immunology, 2021

High Efficiency Gene Correction in Hematopoietic Cells by Donor-Template-Free CRISPR/Cas9 Genome Editing.

Sürün D et al.

Molecular Therapy. Nucleic Acids, 2018

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

[The X+ chronic granulomatous disease as a fabulous model to study the NADPH oxidase complex activation].

Stasia MJ

Medecine Sciences : M/s, 2007

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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."