Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.S36delFs
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SERPING1

NM_000062.3:p.S36delFs

Associated Papers

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

Arias-Flórez JS et al.

Plos One, 2024

Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations).

Nabilou S et al.

Immunological Investigations, 2022

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

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 in Japan: genetic analysis of 13 unrelated cases.

Yamamoto T et al.

The American Journal of the Medical Sciences, 2012

The Turkish Hereditary Angioedema Pilot Study (TURHAPS): the first Turkish series of hereditary angioedema.

Kesim B et al.

International Archives of Allergy and Immunology, 2011

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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."