Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1540P
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VWF

NM_000552.5:p.L1540P

Associated Papers

Application of genetic testing for the diagnosis of von Willebrand disease.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.

Zolkova J et al.

Seminars in Thrombosis and Hemostasis, 2020

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 common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Lynch CJ et al.

Plos One, 2017

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.

Dong J et al.

Plos One, 2012

[Gene mutation analysis of one case with von willebrand disease type 2A].

Hou LH et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2009

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 2007

Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations.

O'Brien LA et al.

Journal of Thrombosis and Haemostasis : Jth, 2005

Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations.

Sutherland JJ et al.

Journal of Molecular Modeling, 2004

Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.

Jenkins PV et al.

Blood, 1998

Molecular genetics of von Willebrand disease.

Ginsburg D et al.

Blood, 1992

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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."