Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.I1425F
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VWF

NM_000552.5:p.I1425F

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

Structure-resolved dynamics of type 2M von Willebrand disease.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.

Zolkova J et al.

Seminars in Thrombosis and Hemostasis, 2020

Mutant botrocetin-2 inhibits von Willebrand factor-induced platelet agglutination.

Matsui T et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Machha VR et al.

Journal of Molecular Biology, 2017

Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.

Zimmermann MT et al.

Biophysical Journal, 2015

Crucial role for the VWF A1 domain in binding to type IV collagen.

Flood VH et al.

Blood, 2015

Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.

Tischer A et al.

Biophysical Journal, 2014

von Willebrand disease.

James PD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011

Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.

Flood VH et al.

Blood, 2010

Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Flood VH et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

The genetic basis of von Willebrand disease.

Goodeve AC

Blood Reviews, 2010

Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Torres R et al.

Clinics in Laboratory Medicine, 2009

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 2009

Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13.

Rayes J et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E et al.

International Journal of Hematology, 2002

Molecular genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

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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."