Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.K298_F303ins2
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SERPING1

NM_000062.3:p.K298_F303ins2

Associated Papers

Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.

Gao H et al.

Journal of Clinical Immunology, 2025

Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation.

Petersen RS et al.

Seminars in Thrombosis and Hemostasis, 2024

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.

Drouet C et al.

Frontiers in Allergy, 2022

Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene.

Sharma J et al.

Clinical Reviews in Allergy & Immunology, 2021

Angioedema without wheals: a clinical update.

Gülbahar O

Balkan Medical Journal, 2021

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence.

Bork K et al.

Orphanet Journal of Rare Diseases, 2020

Angioedema without urticaria: novel findings which must be measured in clinical setting.

Veronez CL et al.

Current Opinion in Allergy and Clinical Immunology, 2020

An update on the genetics and pathogenesis of hereditary angioedema.

Banday AZ et al.

Genes & Diseases, 2020

Hereditary angioedema: the plasma contact system out of control.

De Maat S et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Hereditary angioedema with a mutation in the plasminogen gene.

Bork K et al.

Allergy, 2018

Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis.

Giavina-Bianchi P et al.

Clinics (sao Paulo, Brazil), 2018

Genetics of Hereditary Angioedema Revisited.

Germenis AE et al.

Clinical Reviews in Allergy & Immunology, 2016

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema.

Deroux A et al.

Clinical and Experimental Immunology, 2016

Characterization of patients with angioedema without wheals: the importance of F12 gene screening.

Firinu D et al.

Clinical Immunology (orlando, Fla.), 2015

Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.

Charignon D et al.

Allergy, 2014

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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."