Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.G17_D18Splc
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SERPING1

NM_000062.3:p.G17_D18Splc

Associated Papers

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

Szabó E et al.

Frontiers in Allergy, 2022

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India.

Jindal AK et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021

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

Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4.

Kasami S et al.

The Journal of Dermatology, 2018

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

Pappalardo E et al.

Molecular Immunology, 2008

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.

Gösswein T et al.

Cytogenetic and Genome Research, 2008

Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.

Duponchel C et al.

Human Mutation, 2006

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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."