Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1382P
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VWF

NM_000552.5:p.L1382P

Associated Papers

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Pérez-Rodríguez A et al.

Plos One, 2018

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

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

Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease.

Sharthkumar A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study.

James PD et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

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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."