KEGG   VARIANT: 7450v1
Entry
7450v1                      Variant                                
Name
VWF mutation
Type
Loss of function
Gene
VWF  von Willebrand factor [KO:K03900]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613160
Network
nt06514  Coagulation cascade
Disease
H00219  Hemophilia
H02092  von Willebrand disease
Drug target
Coagulation factor VIII (DG00170): D08798<JP>
Reference
PMID:27959741
  Authors
Leebeek FW, Eikenboom JC
  Title
Von Willebrand's Disease.
  Journal
N Engl J Med 375:2067-2080 (2016)
DOI:10.1056/NEJMra1601561
Reference
PMID:30922616
  Authors
Samuelson Bannow B, Recht M, Negrier C, Hermans C, Berntorp E, Eichler H, Mancuso ME, Klamroth R, O'Hara J, Santagostino E, Matsushita T, Kessler C
  Title
Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis.
  Journal
Blood Rev 35:43-50 (2019)
DOI:10.1016/j.blre.2019.03.002
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