KEGG   VARIANT: 6530v1
Entry
6530v1                      Variant                                
Name
SLC6A2 mutation
Type
Loss of function
Gene
SLC6A2  sodium-dependent noradrenaline transporter isoform 2 [KO:K05035]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 163970
Network
nt06544  Neuroactive ligand signaling
Disease
H01031  Orthostatic intolerance
Reference
PMID:10684912
  Authors
Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D
  Title
Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.
  Journal
N Engl J Med 342:541-9 (2000)
DOI:10.1056/NEJM200002243420803
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