Varaico: Literature-Extracted Genetic Variants

Gene:CCBE1
Variant:p.G256D
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CCBE1

NM_133459.4:p.G256D

Associated Papers

Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.

Tessarin G et al.

Journal of Investigational Allergology & Clinical Immunology, 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."