KEGG   VARIANT: 6535v1
Entry
6535v1                      Variant                                
Name
SLC6A8 deficiency
Type
Loss of function
Gene
SLC6A8  solute carrier family 6 member 8 [KO:K05041]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300036
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H00849  Cerebral creatine deficiency syndrome
Reference
PMID:11326334
  Authors
Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C
  Title
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
  Journal
Am J Hum Genet 68:1497-500 (2001)
DOI:10.1086/320595
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