Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.A461P
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SERPING1

NM_000062.3:p.A461P

Associated Papers

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema.

Aabom A et al.

Orphanet Journal of Rare Diseases, 2017

Presence of C1-inhibitor polymers in a subset of patients suffering from hereditary angioedema.

Madsen DE et al.

Plos One, 2014

Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.

Bygum A et al.

Allergy, 2011

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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."