Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C2085Y
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VWF

NM_000552.5:p.C2085Y

Associated Papers

The von Willebrand factor predicted unpaired cysteines are essential for secretion.

Shapiro SE et al.

Journal of Thrombosis and Haemostasis : Jth, 2014

Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.

Yadegari H et al.

Haematologica, 2013

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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."