Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.S158*
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SERPING1

NM_000062.3:p.S158*

Associated Papers

Case Report: Early presentation of hereditary angioedema symptoms in a 2-year-old boy.

Staikuniene-Kozonis J et al.

Frontiers in Pediatrics, 2024

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

Loules G et al.

Gene, 2018

Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants.

de la Cruz RM et al.

Immunology Letters, 2012

SERPING1 mutations in 59 families with hereditary angioedema.

López-Lera A et al.

Molecular Immunology, 2011

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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."