Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.R130P
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CYBB

NM_000397.4:p.R130P

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

Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease.

Eguchi M et al.

Pediatric Hematology and Oncology, 0

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