Varaico: Literature-Extracted Genetic Variants

Gene:C1S
Variant:p.D298_V303ins2
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C1S

NM_001734.5:p.D298_V303ins2

Associated Papers

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence.

Bork K et al.

Orphanet Journal of Rare Diseases, 2020

Hereditary angioedema: the plasma contact system out of control.

De Maat S et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

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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."