Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.W482*
Back to variants list

SERPING1

NM_000062.3:p.W482*

Associated Papers

Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.

Hashimura C et al.

Allergy, 2021

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

Loules G et al.

Gene, 2018

Hereditary angioedema in Greek families caused by novel and recurrent mutations.

Speletas M et al.

Human Immunology, 2009

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."