Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.M814_V815Splc
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VWF

NM_000552.5:p.M814_V815Splc

Associated Papers

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf

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

Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile.

Elayaperumal S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Kasatkar P et al.

Plos One, 2014

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Hampshire DJ et al.

Thrombosis and Haemostasis, 2013

Molecular characterization of Iranian patients with type 3 von Willebrand disease.

Shahbazi S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 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."