Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.A368P
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CYBB

NM_000397.4:p.A368P

Associated Papers

Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.

Bionda C et al.

Human Genetics, 2004

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

Rae J et al.

American Journal of Human Genetics, 1998

A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.

Kuribayashi F et al.

Human Genetics, 1996

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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."