Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1173F
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VWF

NM_000552.5:p.C1173F

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

Challenges and considerations of genetic testing in von Willebrand disease.

Seidizadeh O et al.

Research and Practice in Thrombosis and Haemostasis, 2025

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

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Preisler B et al.

Journal of Clinical Medicine, 2021

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 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

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.

Schneppenheim R et al.

Blood, 2010

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

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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."