Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.W222*
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VWF

NM_000552.5:p.W222*

Associated Papers

The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.

Pagliari MT et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022

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

Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations.

Agathangelidis A et al.

Haematologica, 2018

29449433 (PubMed )
Supplement: 2017.177212.AGATHANGELIDIS_SUPPL.pdf

Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease.

Baronciani L et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease.

Baronciani L et al.

Thrombosis and Haemostasis, 2000

Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.

Baronciani L et al.

Blood Cells, Molecules & Diseases, 0

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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."