Varaico: Literature-Extracted Genetic Variants

Gene:MYOF
Variant:p.R217S
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MYOF

NM_013451.4:p.R217S

Associated Papers

Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.

Perez SM et al.

Journal of Developmental Biology, 2025

Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation.

Petersen RS et al.

Seminars in Thrombosis and Hemostasis, 2024

Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.

Lyons JJ et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

Chronic systemic capillary leak syndrome with lymphatic capillaries involvement and MYOF mutation: case report and literature review.

Gao D et al.

Frontiers in Genetics, 2023

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

Hashimura C et al.

Allergy, 2021

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

Sharma J et al.

Clinical Reviews in Allergy & Immunology, 2021

The Genetics of Hereditary Angioedema: A Review.

Santacroce R et al.

Journal of Clinical Medicine, 2021

Pathophysiology and underlying mechanisms in hereditary angioedema.

López Lera A

Balkan Medical Journal, 2021

A myoferlin gain-of-function variant associates with a new type of hereditary angioedema.

Ariano A et al.

Allergy, 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

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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."