Varaico: Literature-Extracted Genetic Variants

Gene:CYBC1
Variant:p.D109insFs
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CYBC1

NM_001033046.4:p.D109insFs

Associated Papers

First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.

Bhattarai D et al.

Journal of Clinical Immunology, 2024

A novel mutation in EROS (CYBC1) causes chronic granulomatous disease.

Mortimer PM et al.

Clinical Immunology (orlando, Fla.), 2023

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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."