Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.K299K
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CYBB

NM_000397.4:p.K299K

Associated Papers

Hematopoietic stem cell transplantation in a patient with X-linked chronic granulomatous disease and BCGosis: A case report and review of literature.

Huang PC et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2023

Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.

Wang S et al.

Journal of Clinical Immunology, 2019

Major CD4 T-Cell Depletion and Immune Senescence in a Patient with Chronic Granulomatous Disease.

Albuquerque AS et al.

Frontiers in Immunology, 2017

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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."