Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.E124*
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CYBB

NM_000397.4:p.E124*

Associated Papers

A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017).

Zhou Q et al.

Journal of Clinical Immunology, 2018

High Efficiency Gene Correction in Hematopoietic Cells by Donor-Template-Free CRISPR/Cas9 Genome Editing.

Sürün D et al.

Molecular Therapy. Nucleic Acids, 2018

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."