Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.R466S
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SERPING1

NM_000062.3:p.R466S

Associated Papers

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.

Wang X et al.

Hereditas, 2022

A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain).

Mendoza-Alvarez A et al.

Frontiers in Immunology, 2022

Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.

Mendoza-Alvarez A et al.

Journal of Medical Internet Research, 2020

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency.

Obtulowicz K et al.

Central-european Journal of Immunology, 2020

Hereditary angioedema: a Chinese perspective.

Liu S et al.

European Journal of Dermatology : Ejd, 2019

Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.

Xu YY et al.

Allergy, 2012

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."