KEGG   VARIANT: 2812v1
Entry
2812v1                      Variant                                
Name
GP1BB mutation
Type
Loss of function
Gene
GP1BB  glycoprotein Ib platelet subunit beta [KO:K06262]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138720
Network
nt06514  Coagulation cascade
Disease
H01740  Macrothrombocytopenia
Reference
PMID:10887115
  Authors
Moran N, Morateck PA, Deering A, Ryan M, Montgomery RR, Fitzgerald DJ, Kenny D
  Title
Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.
  Journal
Blood 96:532-9 (2000)
DOI:10.1182/blood.V96.2.532
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