Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.C244R
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CYBB

NM_000397.4:p.C244R

Associated Papers

A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.

Jia A et al.

Pharmacogenomics and Personalized Medicine, 2023

Structure of human phagocyte NADPH oxidase in the resting state.

Liu R et al.

Elife, 2022

[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

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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."