Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1190S
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VWF

NM_000552.5:p.C1190S

Associated Papers

Weibel-Palade bodies: a window to von Willebrand disease.

Valentijn KM et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Jacobi PM et al.

Blood, 2012

Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.

Gadisseur A et al.

Acta Haematologica, 2009

Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.

Kakela JK et al.

Molecular Genetics and Metabolism, 2006

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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."