Varaico: Literature-Extracted Genetic Variants

Gene:KNG1
Variant:p.M379K
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KNG1

NM_001102416.3:p.M379K

Associated Papers

Abstracts of the 14th C1-inhibitor Deficiency and Angioedema Workshop.

Unknown Author

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2026

Insights From the First 820 Patients From the Brazilian Multicenter Registry of Hereditary Angioedema: The Key Role of Genetic Testing and Targeted Therapies.

Ferriani MPL et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.

Adenaeuer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Mechanisms involved in hereditary angioedema with normal C1-inhibitor activity.

Shamanaev A et al.

Frontiers in Physiology, 2023

Pathophysiology and underlying mechanisms in hereditary angioedema.

López Lera A

Balkan Medical Journal, 2021

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Loules G et al.

Journal of Clinical Medicine, 2020

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

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.

Bork K et al.

Allergy, 2019

Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics.

Marcelino-Rodriguez I et al.

Frontiers in Genetics, 2019

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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."