Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S1285P
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VWF

NM_000552.5:p.S1285P

Associated Papers

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

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

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.

Kreft IC et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Atiq F et al.

Hemasphere, 2022

Investigating the clearance of VWF A-domains using site-directed PEGylation and novel N-linked glycosylation.

Fazavana J et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

Yadegari H et al.

Hamostaseologie, 2020

Von Willebrand disease mutation spectrum and associated mutation mechanisms.

de Jong A et al.

Thrombosis Research, 2017

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

von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease.

Sanders YV et al.

Blood, 2015

Storage and secretion of naturally occurring von Willebrand factor A domain variants.

Groeneveld DJ et al.

British Journal of Haematology, 2014

New development in von Willebrand disease.

Castaman G

Current Opinion in Hematology, 2013

Clearance of von Willebrand factor.

Casari C et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Analysis of the storage and secretion of von Willebrand factor in blood outgrowth endothelial cells derived from patients with von Willebrand disease.

Wang JW et al.

Blood, 2013

Advances in the diagnosis and management of type 1 von Willebrand disease.

Castaman G et al.

Expert Review of Hematology, 2011

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

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

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).

Budde U et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Goodeve A et al.

Blood, 2007

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