Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2B
Variant:p.N64D
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CC2D2B

NM_001159747.2:p.N64D

Associated Papers

Abstracts of the 14th C1-inhibitor Deficiency and Angioedema Workshop.

Unknown Author

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2026

The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.

Rupar N et al.

Gene, 2024

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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."