Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1165R
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VWF

NM_000552.5:p.C1165R

Associated Papers

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

Yadegari H et al.

Hamostaseologie, 2020

Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion.

Yin J et al.

Journal of Hematology & Oncology, 2015

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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."