KEGG   VARIANT: 3953v1
Entry
3953v1                      Variant                                
Name
LEPR mutation
Type
Loss of function
Gene
LEPR  leptin receptor [KO:K05062]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601007
Network
nt06325  Hormone/cytokine signaling
nt06518  JAK-STAT signaling
Disease
H02060  Leptin receptor deficiency
Reference
PMID:9537324
  Authors
Clement K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougneres P, Lebouc Y, Froguel P, Guy-Grand B
  Title
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.
  Journal
Nature 392:398-401 (1998)
DOI:10.1038/32911
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