Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.E417Splc
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SERPING1

NM_000062.3:p.E417Splc

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

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."