Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.K299_V300Splc
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CYBB

NM_000397.4:p.K299_V300Splc

Associated Papers

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.

Baba LA et al.

Journal of Clinical Immunology, 2014

Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

Hill HR et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C et al.

Human Mutation, 2008

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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."