Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.R466G
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SERPING1

NM_000062.3:p.R466G

Associated Papers

[Two pediatric hereditary angioedemathe families: case report and literature review].

Xia Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Arias-Flórez JS et al.

Plos One, 2024

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

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

Loules G et al.

Gene, 2018

First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual.

Rodríguez JA et al.

Journal of Clinical Immunology, 2018

Hereditary angioedema: molecular and clinical differences among European populations.

Speletas M et al.

The Journal of Allergy and Clinical Immunology, 2015

SERPING1 mutations in 59 families with hereditary angioedema.

López-Lera A et al.

Molecular Immunology, 2011

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.

Gösswein T et al.

Cytogenetic and Genome Research, 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."