Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.L427delFs
Back to variants list

SERPING1

NM_000062.3:p.L427delFs

Associated Papers

Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene.

Xu YY et al.

Clinical and Translational Allergy, 2020

Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema.

Madsen DE et al.

Plos One, 2014

Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.

Xu YY et al.

Allergy, 2012

Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.

Bygum A et al.

Allergy, 2011

Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.

Pappalardo E et al.

Molecular Immunology, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."