VWF c.2313G>A ;(p.M771I)

Variant ID: 12-6153586-C-T

NM_000552.3(VWF):c.2313G>A;(p.M771I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Von Willebrand Disease: From In Vivo to In Vitro Disease Models.

Hemasphere
de Boer, Suzan S; Eikenboom, Jeroen J
Publication Date: 2019-10

Variant appearance in text: VWF: M771I
PubMed Link: 31942548
Variant Present in the following documents:
  • hs9-3-e297.pdf
View BVdb publication page



Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Blood
Haberichter, Sandra L SL; Castaman, Giancarlo G; Budde, Ulrich U; Peake, Ian I; Goodeve, Anne A; Rodeghiero, Francesco F; Federici, Augusto B AB; Batlle, Javier J; Meyer, Dominique D; Mazurier, Claudine C; Goudemand, Jenny J; Eikenboom, Jeroen J; Schneppenheim, Reinhard R; Ingerslev, Jorgen J; Vorlova, Zdena Z; Habart, David D; Holmberg, Lars L; Lethagen, Stefan S; Pasi, John J; Hill, Frank G H FG; Montgomery, Robert R RR
Publication Date: 2008-05-15

Variant appearance in text: VWF: M771I
PubMed Link: 18344424
Variant Present in the following documents:
  • Main text
View BVdb publication page