Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.V473G
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SERPING1

NM_000062.3:p.V473G

Associated Papers

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.

Loli-Ausejo D et al.

Clinical Reviews in Allergy & Immunology, 2021

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Hereditary angioedema: a Chinese perspective.

Liu S et al.

European Journal of Dermatology : Ejd, 2019

Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.

Loules G et al.

Gene, 2018

Hereditary angioedema: molecular and clinical differences among European populations.

Speletas M et al.

The Journal of Allergy and Clinical Immunology, 2015

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

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."