Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.P399R
Back to variants list

SERPING1

NM_000062.3:p.P399R

Associated Papers

Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants.

Ryø LB et al.

The Journal of Allergy and Clinical Immunology, 2023

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.

Loli-Ausejo D et al.

Clinical Reviews in Allergy & Immunology, 2021

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

Roche O et al.

Human Mutation, 2005

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."