Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.A456E
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SERPING1

NM_000062.3:p.A456E

Associated Papers

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

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

Loules G et al.

Gene, 2018

Hereditary angioedema: molecular and clinical differences among European populations.

Speletas M et al.

The Journal of Allergy and Clinical Immunology, 2015

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."