Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.M1V
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SERPING1

NM_000062.3:p.M1V

Associated Papers

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

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

Loules G et al.

Gene, 2018

SERPING1 mutations in 59 families with hereditary angioedema.

López-Lera A et al.

Molecular Immunology, 2011

The Turkish Hereditary Angioedema Pilot Study (TURHAPS): the first Turkish series of hereditary angioedema.

Kesim B et al.

International Archives of Allergy and Immunology, 2011

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

Speletas M et al.

Human Immunology, 2009

Molecular diagnosis and management of hereditary angioedema in a Greek family.

Papadopoulou-Alataki E et al.

International Archives of Allergy and Immunology, 2008

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

Gösswein T et al.

Cytogenetic and Genome Research, 2008

Phenotypic Heterogeny of Hereditary Angioedema Within a Single Family.

Fails JM et al.

Kansas Journal of Medicine, 0

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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."