Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.T328R
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F12

NM_000505.4:p.T328R

Associated Papers

C1 inhibitor: from complement system to bradykinin angioedema.

Defendi F et al.

Current Opinion in Immunology, 2025

Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation.

Petersen RS et al.

Seminars in Thrombosis and Hemostasis, 2024

Hereditary angioedema with normal C1-inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated families.

Dias de Castro E et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2024

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

Drouet C et al.

Frontiers in Allergy, 2022

High Estrogen States in Hereditary Angioedema: a Spectrum.

Kulkarni M et al.

Clinical Reviews in Allergy & Immunology, 2021

The Genetics of Hereditary Angioedema: A Review.

Santacroce R et al.

Journal of Clinical Medicine, 2021

Periodic Severe Angioedema without Exogenous Hormone Exposure.

Nabavi M et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2021

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

Measurement of Bradykinin Formation and Degradation in Blood Plasma: Relevance for Acquired Angioedema Associated With Angiotensin Converting Enzyme Inhibition and for Hereditary Angioedema Due to Factor XII or Plasminogen Gene Variants.

Marceau F et al.

Frontiers in Medicine, 2020

[Hereditary angioedema].

Aygören-Pürsün E et al.

Der Internist, 2019

SERPING1 and F12 combined variants in a hereditary angioedema family.

Charignon D et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2018

Hereditary angioedema with a mutation in the plasminogen gene.

Bork K et al.

Allergy, 2018

Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1).

Stieber C et al.

European Journal of Human Genetics : Ejhg, 2017

A rare mutation in the F12 gene in a patient with ACE inhibitor-induced angioedema.

Veronez CL et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017

Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families.

Piñero-Saavedra M et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2016

Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema.

Grumach AS et al.

Allergy, 2016

First report of a FXII gene mutation in a Brazilian family with hereditary angio-oedema with normal C1 inhibitor.

Stieber C et al.

The British Journal of Dermatology, 2015

Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.

Bork K et al.

Allergy, 2015

Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.

Moreno AS et al.

International Archives of Allergy and Immunology, 2015

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

Charignon D et al.

Allergy, 2014

Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angioedema and normal C1 inhibitor.

Bork K et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.

Bork K et al.

Clinical Immunology (orlando, Fla.), 2011

Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema.

Nagy N et al.

Journal of Dermatological Science, 2009

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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."