Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1272Y
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VWF

NM_000552.5:p.C1272Y

Associated Papers

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

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

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