KEGG   VARIANT: 6507v1
Entry
6507v1                      Variant                                
Name
SLC1A3 mutation
Type
Loss of function
Gene
SLC1A3  solute carrier family 1 member 3 [KO:K05614]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600111
Network
nt06544  Neuroactive ligand signaling
Disease
H00749  Episodic ataxias
Reference
PMID:19139306
  Authors
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM
  Title
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
  Journal
Arch Neurol 66:97-101 (2009)
DOI:10.1001/archneurol.2008.535
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