Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.M325T
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SERPING1

NM_000062.3:p.M325T

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

Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema.

Martinho A et al.

Molecular Immunology, 2013

SERPING1 mutations in 59 families with hereditary angioedema.

López-Lera A et al.

Molecular Immunology, 2011

The Turkish Hereditary Angioedema Pilot Study (TURHAPS): the first Turkish series of hereditary angioedema.

Kesim B et al.

International Archives of Allergy and Immunology, 2011

Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.

Pappalardo E et al.

Molecular Immunology, 2008

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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."