KEGG   VARIANT: 2157v1
Entry
2157v1                      Variant                                
Name
F8 mutation
Type
Loss of function
Gene
F8  coagulation factor VIII [KO:K03899]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300841
Network
nt06514  Coagulation cascade
Disease
H00219  Hemophilia
Drug target
Coagulation factor VIII (DG00170): D05401 D05409<JP> D08232 D08798<JP> D10227<JP> D10539<JP> D10758<JP> D10759<JP> D10760<JP> D10771<JP> D10818<JP> D10830 D10831<JP> D10842<JP> D12441<JP>
Valoctocogene roxaparvovec: D12434<US>
Reference
PMID:34168126
  Authors
Berntorp E, Fischer K, Hart DP, Mancuso ME, Stephensen D, Shapiro AD, Blanchette V
  Title
Haemophilia.
  Journal
Nat Rev Dis Primers 7:45 (2021)
DOI:10.1038/s41572-021-00278-x
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