Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.P476H
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SERPING1

NM_000062.3:p.P476H

Associated Papers

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Hereditary angioedema: a Chinese perspective.

Liu S et al.

European Journal of Dermatology : Ejd, 2019

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."