Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.V1409F
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VWF

NM_000552.5:p.V1409F

Associated Papers

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Yadegari H et al.

Thrombosis and Haemostasis, 2026

Structure-resolved dynamics of type 2M von Willebrand disease.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis.

Moreno-Castaño AB et al.

Platelets, 2021

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

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Borràs N et al.

Haematologica, 2017

von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.

Schneppenheim R et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.

Corrales I et al.

Thrombosis and Haemostasis, 2009

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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."