Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.K343_V344Splc
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SERPING1

NM_000062.3:p.K343_V344Splc

Associated Papers

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

Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.

Loules G et al.

Gene, 2018

F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema.

Speletas M et al.

Allergy, 2015

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.

Gösswein T et al.

Cytogenetic and Genome Research, 2008

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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."