Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G785E
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VWF

NM_000552.5:p.G785E

Associated Papers

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

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

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

Michiels JJ et al.

Acta Haematologica, 2009

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 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 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

A patient with type 2N von Willebrand disease is heterozygous for a new mutation: Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies.

Gu J et al.

Blood, 1997

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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."