Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Q1556R
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VWF

NM_000552.5:p.Q1556R

Associated Papers

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

von Willebrand factor binds to angiopoietin-2 within endothelial cells and after release from Weibel-Palade bodies.

Mobayen G et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Atiq F et al.

Hemasphere, 2022

Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

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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."