Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.E451fs
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SERPING1

NM_000062.3:p.E451fs

Associated Papers

Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema.

Veronez CL et al.

Frontiers in Medicine, 2019

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

Loules G et al.

Gene, 2018

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

Steiner UC et al.

Clinical and Experimental Immunology, 2017

New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.

Cagini N et al.

Biological Chemistry, 2016

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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."