Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.A117E
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CYBA

NM_000101.4:p.A117E

Associated Papers

Characterization of missense mutations in the NADPH oxidase partner p22phox in the A22° subtype of chronic granulomatous disease.

Kawai C et al.

Microbiology and Immunology, 2023

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

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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."