Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.G493E
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SERPING1

NM_000062.3:p.G493E

Associated Papers

Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.

Iuraşcu MI et al.

Clinical and Translational Allergy, 2023

Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.

Szabó E et al.

Frontiers in Allergy, 2022

Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.

Hashimura C et al.

Allergy, 2021

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

Hereditary angioedema due to C1 inhibitor deficiency in Belarus: epidemiology, access to diagnosis and seven novel mutations in SERPING1 gene.

Guryanova I et al.

Clinical and Molecular Allergy : Cma, 2021

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

Loules G et al.

Gene, 2018

Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.

Bafunno V et al.

Annals of Human Genetics, 2014

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."