Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.Q348*
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SERPING1

NM_000062.3:p.Q348*

Associated Papers

Abstracts of the 14th C1-inhibitor Deficiency and Angioedema Workshop.

Unknown Author

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2026

Hereditary angioedema: a Chinese perspective.

Liu S et al.

European Journal of Dermatology : Ejd, 2019

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

Loules G et al.

Gene, 2018

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

Xu YY et al.

Allergy, 2012

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."