Varaico: Literature-Extracted Genetic Variants

Gene:SERPING1
Variant:p.E417Splc
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SERPING1

NM_000062.3:p.E417Splc

Associated Papers

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency.

Vatsiou S et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2020

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

Loules G et al.

Gene, 2018

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

Aabom A et al.

Orphanet Journal of Rare Diseases, 2017

Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema.

Andersen MF et al.

Case Reports in Dermatological Medicine, 2015

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

Madsen DE et al.

Plos One, 2014

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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."