Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.P1648delFs
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VWF

NM_000552.5:p.P1648delFs

Associated Papers

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.

Seidizadeh O et al.

Npj Genomic Medicine, 2023

37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Baronciani L et al.

Blood Advances, 2021

Combined effects of two mutations in von Willebrand disease 2M phenotype.

Woods AI et al.

Research and Practice in Thrombosis and Haemostasis, 2018

Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Lavin M et al.

Blood, 2017

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.

Cumming A et al.

Thrombosis and Haemostasis, 2006

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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."