KEGG   VARIANT: 2815v1
Entry
2815v1                      Variant                                
Name
GP9 mutation
Type
Loss of function
Gene
GP9  platelet glycoprotein IX precursor [KO:K06263]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 173515
Network
nt06514  Coagulation cascade
Disease
H01740  Macrothrombocytopenia
Reference
PMID:8049428
  Authors
Clemetson JM, Kyrle PA, Brenner B, Clemetson KJ
  Title
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.
  Journal
Blood 84:1124-31 (1994)
DOI:10.1182/blood.V84.4.1124.1124
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