Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.P171Q
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SERPING1

NM_000062.3:p.P171Q

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

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.

Willems E et al.

Clinical & Translational Immunology, 2020

33318796 (PubMed )
Supplement: CTI2-9-e1225-s001.pdf

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."