Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST6
Variant:p.T144S
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HS3ST6

NM_001009606.4:p.T144S

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

Genetic Variants Leading to Urticaria and Angioedema and Associated Biomarkers.

Lyons JJ et al.

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

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

Hashimura C et al.

Allergy, 2021

Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation.

Bork K et al.

The Journal of Allergy and Clinical Immunology, 2021

The Genetics of Hereditary Angioedema: A Review.

Santacroce R et al.

Journal of Clinical Medicine, 2021

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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."