Varaico: Literature-Extracted Genetic Variants

Gene:STAB2
Variant:p.E2377K
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STAB2

NM_017564.10:p.E2377K

Associated Papers

The contribution of the sinusoidal endothelial cell receptors CLEC4M, stabilin-2, and SCARA5 to VWF-FVIII clearance in thrombosis and hemostasis.

Swystun LL et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Genetic regulation of plasma von Willebrand factor levels in health and disease.

Swystun LL et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

The endothelial cell receptor stabilin-2 regulates VWF-FVIII complex half-life and immunogenicity.

Swystun LL et al.

The Journal of Clinical Investigation, 2018

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

Huffman JE et al.

Blood, 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."