Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.G184Splc
Back to variants list

SERPING1

NM_000062.3:p.G184Splc

Associated Papers

Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.

Iuraşcu MI et al.

Clinical and Translational Allergy, 2023

Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.

Wang X et al.

Hereditas, 2022

Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.

Szabó E et al.

Frontiers in Allergy, 2022

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.

Vatsiou S et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2020

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

Loules G et al.

Gene, 2018

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."