Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.K343_V344Splc
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SERPING1

NM_000062.3:p.K343_V344Splc

Associated Papers

Negative pressure flash pulmonary edema in a child with hereditary angioedema.

Barman P et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.

Hashimura C et al.

Allergy, 2021

Hereditary angioedema in Japan: genetic analysis of 13 unrelated cases.

Yamamoto T et al.

The American Journal of the Medical Sciences, 2012

SERPING1 mutations in 59 families with hereditary angioedema.

López-Lera A et al.

Molecular Immunology, 2011

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."