Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.R466L
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SERPING1

NM_000062.3:p.R466L

Associated Papers

Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene.

Markocsy A et al.

The World Allergy Organization Journal, 2024

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.

Wang X et al.

Hereditas, 2022

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

Hashimura C et al.

Allergy, 2021

Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency.

Obtulowicz K et al.

Central-european Journal of Immunology, 2020

Hereditary angioedema: a Chinese perspective.

Liu S et al.

European Journal of Dermatology : Ejd, 2019

Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.

Xu YY et al.

Allergy, 2012

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

Yamamoto T et al.

The American Journal of the Medical Sciences, 2012

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

Roche O et al.

Human Mutation, 2005

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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."