Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S1486A
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VWF

NM_000552.5:p.S1486A

Associated Papers

O-glycan determinants regulate VWF trafficking to Weibel-Palade bodies.

Karampini E et al.

Blood Advances, 2024

Sialylation on O-linked glycans protects von Willebrand factor from macrophage galactose lectin-mediated clearance.

Ward SE et al.

Haematologica, 2022

Genetic variants of VWF gene in type 2 von Willebrand disease.

Freitas SDS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

The O-linked glycans of human von Willebrand factor modulate its interaction with ADAMTS-13.

Nowak AA et al.

Journal of Thrombosis and Haemostasis : Jth, 2014

Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.

Casari C et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2013

O-linked glycosylation of von Willebrand factor modulates the interaction with platelet receptor glycoprotein Ib under static and shear stress conditions.

Nowak AA et al.

Blood, 2012

In vivo analysis of the role of O-glycosylations of von Willebrand factor.

Badirou I et al.

Plos One, 2012

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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."