Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.M800V
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VWF

NM_000552.5:p.M800V

Associated Papers

Structural insights into blood coagulation factor VIII: Procoagulant complexes, membrane binding, and antibody inhibition.

Childers KC et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

A novel mouse model of type 2N VWD was developed by CRISPR/Cas9 gene editing and recapitulates human type 2N VWD.

Shi Q et al.

Blood Advances, 2022

35015821 (PubMed )
Supplement: advancesADV2021006353-suppl1.pdf

Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.

Rassoulzadegan M et al.

International Journal of Hematology, 2020

The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.

Dong X et al.

Blood, 2019

Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.

Michiels JJ et al.

Acta Haematologica, 2009

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

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 diagosis of von Willebrand disease.

Ruan C

International Journal of Hematology, 2002

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

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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."