KEGG   VARIANT: 6571v1
Entry
6571v1                      Variant                                
Name
SLC18A2 mutation
Type
Loss of function
Gene
SLC18A2  synaptic vesicular amine transporter [KO:K08155]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 193001
Network
nt06028  Dopamine and serotonin metabolism
nt06544  Neuroactive ligand signaling
Disease
H02676  Infantile-onset parkinsonism-dystonia
Reference
PMID:23363473
  Authors
Rilstone JJ, Alkhater RA, Minassian BA
  Title
Brain dopamine-serotonin vesicular transport disease and its treatment.
  Journal
N Engl J Med 368:543-50 (2013)
DOI:10.1056/NEJMoa1207281
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