KEGG   VARIANT: 2796v1
Entry
2796v1                      Variant                                
Name
GNRH1 mutation
Gene
GNRH1  gonadotropin releasing hormone 1 [KO:K05252]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 152760
Network
nt06361  Hypogonadotropic hypogonadism
  Element
N00874  Mutation-inactivated GnRH to GnRH-GnRHR-PLCB-PKC signaling pathway
Disease
H00255  Hypogonadotropic hypogonadism
Reference
PMID:19535795
  Authors
Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, Lombes M, Millar RP, Guiochon-Mantel A, Young J
  Title
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
  Journal
N Engl J Med 360:2742-8 (2009)
DOI:10.1056/NEJMoa0900136
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