Varaico: Literature-Extracted Genetic Variants

Gene:CPN1
Variant:p.T245M
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CPN1

NM_001308.3:p.T245M

Associated Papers

Dominant inheritance in hereditary angioedema associated with carboxypeptidase N deficiency.

Hida T et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2025

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency.

Vincent D et al.

The Journal of Allergy and Clinical Immunology. Global, 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."