Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.V224G
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SERPINA1

NM_000295.5:p.V224G

Associated Papers

Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants.

Ryø LB et al.

The Journal of Allergy and Clinical Immunology, 2023

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

Roche O et al.

Human Mutation, 2005

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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."