KEGG   VARIANT: 1814v1
Entry
1814v1                      Variant                                
Name
DRD3 gain-of-function mutation
Type
Gain of function
Gene
DRD3  D(3) dopamine receptor isoform a [KO:K04146]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 126451
Network
nt06544  Neuroactive ligand signaling
Disease
H01577  Essential tremor
Reference
PMID:16650084
  Authors
Lucotte G, Lagarde JP, Funalot B, Sokoloff P
  Title
Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families.
  Journal
Clin Genet 69:437-40 (2006)
DOI:10.1111/j.1399-0004.2006.00600.x
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