Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Cys2362Phe (p.C2362F)
(
ENST00000261405.10 )
VWF p.Cys2362Phe (p.C2362F) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease
- Source Database
- DisGeNET
- Description
- VWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from a patient with von Willebrand disease (VWD) homozygous for the C2362F mutation and a normal subject, were submitted to cleavage by recombinant ADAMTS13 under static conditions in the presence of urea.
- Pubmed
- 23446343
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.249618745023685
- Year of publication
- 2013
Drugs