KEGG   VARIANT: 3060v1
Entry
3060v1                      Variant                                
Name
HCRT mutation
Type
Loss of function
Gene
HCRT  hypocretin neuropeptide precursor [KO:K05246]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602358
Network
nt06325  Hormone/cytokine signaling
Disease
H01293  Narcolepsy
Reference
  Authors
Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E
  Title
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.
  Journal
Nat Med 6:991-7 (2000)
DOI:10.1038/79690
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