Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.G17_D18Splc
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SERPING1

NM_000062.3:p.G17_D18Splc

Associated Papers

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

Hashimura C et al.

Allergy, 2021

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.

Vatsiou S et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2020

Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema.

Veronez CL et al.

Frontiers in Medicine, 2019

New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.

Cagini N et al.

Biological Chemistry, 2016

Hereditary angioedema in Japan: genetic analysis of 13 unrelated cases.

Yamamoto T et al.

The American Journal of the Medical Sciences, 2012

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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."