Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.R400C
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SERPING1

NM_000062.3:p.R400C

Associated Papers

Recessive SERPING1 Variant Leads to Kinin-Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema.

Maia LSM et al.

Journal of Clinical Medicine, 2023

High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis.

Tesolin P et al.

Journal of Personalized Medicine, 2022

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.

Drouet C et al.

Frontiers in Allergy, 2022

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

SERPING1 mutations in 59 families with hereditary angioedema.

López-Lera A et al.

Molecular Immunology, 2011

A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation.

López-Lera A et al.

The Journal of Allergy and Clinical Immunology, 2010

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

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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."