Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1234W
Back to variants list

VWF

NM_000552.5:p.C1234W

Associated Papers

Von Willebrand Disease: From In Vivo to In Vitro Disease Models.

de Boer S et al.

Hemasphere, 2019

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

New development in von Willebrand disease.

Castaman G

Current Opinion in Hematology, 2013

Weibel-Palade bodies: a window to von Willebrand disease.

Valentijn KM et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Jacobi PM et al.

Blood, 2012

Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.

Woods AI et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage.

Haberichter SL et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 2009

Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion.

Hommais A et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."