Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.L349F
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SERPING1

NM_000062.3:p.L349F

Associated Papers

Recessive SERPING1 Variant Leads to Kinin-Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema.

Maia LSM et al.

Journal of Clinical Medicine, 2023

Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.

Ren Z et al.

The Journal of Allergy and Clinical Immunology, 2023

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Exome sequencing in large, multiplex bipolar disorder families from Cuba.

Maaser A et al.

Plos One, 2018

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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."