Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.N1421K
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VWF

NM_000552.5:p.N1421K

Associated Papers

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

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

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

Berber E et al.

Blood Transfusion = Trasfusione Del Sangue, 2017

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

Matsui T et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

Clearance of von Willebrand factor.

Casari C et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease.

Johansson AM et al.

Annals of Human Genetics, 2011

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

N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets.

Lanke E et al.

European Journal of Haematology, 2008

Gene symbol: VWF. Disease: Von Willebrand disease?

Mueller OT

Human Genetics, 2008

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Goodeve A et al.

Blood, 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."