Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1169W
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VWF

NM_000552.5:p.C1169W

Associated Papers

Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Atiq F et al.

Blood Advances, 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

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.

Brehm MA et al.

Thrombosis and Haemostasis, 2014

von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.

Schneppenheim R et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

Schneppenheim R et al.

Blood, 2010

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

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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."