Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C275R
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VWF

NM_000552.5:p.C275R

Associated Papers

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Seidizadeh O et al.

Haematologica, 2026

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Seidizadeh O et al.

Blood Advances, 2022

Structural basis of von Willebrand factor multimerization and tubular storage.

Zeng J et al.

Blood, 2022

35148377 (PubMed )
Supplement: mmc1_BLOOD605.pdf

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

Type 2M and Type 2A von Willebrand Disease: Similar but Different.

Favaloro EJ et al.

Seminars in Thrombosis and Hemostasis, 2016

Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.

Stufano F et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

[The function and clinical value of Von Willebrand factor propeptide].

Yin J et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2015

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

Hampshire DJ et al.

Thrombosis and Haemostasis, 2013

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

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

Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease.

Baronciani L et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

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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."