Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.S460F
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SERPING1

NM_000062.3:p.S460F

Associated Papers

Recessive SERPING1 Variant Leads to Kinin-Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema.

Maia LSM et al.

Journal of Clinical Medicine, 2023

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

Drouet C et al.

Frontiers in Allergy, 2022

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.

Loli-Ausejo D et al.

Clinical Reviews in Allergy & Immunology, 2021

Novel homozygous variants in the SERPING1 gene in two Turkish families with hereditary angioedema of recessive inheritance.

Mete Gökmen N et al.

Immunology and Cell Biology, 2020

Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity.

Mete Gökmen N et al.

International Archives of Allergy and Immunology, 0

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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."