Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.S318*
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SERPING1

NM_000062.3:p.S318*

Associated Papers

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.

Steiner UC et al.

Clinical and Experimental Immunology, 2017

Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.

Firinu D et al.

Clinical Immunology (orlando, Fla.), 2013

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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."