Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.K1362T
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VWF

NM_000552.5:p.K1362T

Associated Papers

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

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

von Willebrand factor binds to angiopoietin-2 within endothelial cells and after release from Weibel-Palade bodies.

Mobayen G et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Vwf K1362A resulted in failure of protein synthesis in mice.

Sanda N et al.

International Journal of Hematology, 2018

Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

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

Tischer A et al.

Biophysical Journal, 2014

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 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

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

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

Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion.

Hommais A et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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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."