KEGG   VARIANT: 8822v1
Entry
8822v1                      Variant                                

Name
FGF17 mutation
Gene
FGF17  fibroblast growth factor 17 [KO:K04358]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603725
Network
nt06361  Hypogonadotropic hypogonadism
  Element
N00877  Mutation-inactivated FGF17 to RAS-ERK signaling pathway
Reference
  Authors
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
  Title
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
  Journal
Am J Hum Genet 92:725-43 (2013)
DOI:10.1016/j.ajhg.2013.04.008
LinkDB

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