Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.M441T
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SERPING1

NM_000062.3:p.M441T

Associated Papers

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Ponard D et al.

Human Mutation, 2020

Genetic variants of SERPING1 gene in Polish patients with hereditary angioedema due to C1 inhibitor deficiency.

Obtulowicz K et al.

Central-european Journal of Immunology, 2020

Hereditary angioedema: a Chinese perspective.

Liu S et al.

European Journal of Dermatology : Ejd, 2019

Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema.

Haslund D et al.

The Journal of Clinical Investigation, 2019

Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.

Xu YY et al.

Allergy, 2012

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."