KEGG   VARIANT: 64805v1
Entry
64805v1                      Variant                               
Name
P2Y12 mutation
Type
Loss of function
Gene
P2RY12  purinergic receptor P2Y12 [KO:K04298]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600515
Network
nt06535  Efferocytosis
nt06544  Neuroactive ligand signaling
Disease
H01235  Bleeding disorder platelet-type
Reference
PMID:12578987
  Authors
Cattaneo M, Zighetti ML, Lombardi R, Martinez C, Lecchi A, Conley PB, Ware J, Ruggeri ZM
  Title
Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding.
  Journal
Proc Natl Acad Sci U S A 100:1978-83 (2003)
DOI:10.1073/pnas.0437879100
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