KEGG   VARIANT: 2253v1Help
Entry
2253v1                      Variant                                

Name
FGF8 mutation
Gene
FGF8  fibroblast growth factor 8 [KO:K04358]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600483
Network
  Element
N00876  Mutation-inactivated FGF8 to RAS-ERK signaling pathway
Reference
  Authors
Trarbach EB, Abreu AP, Silveira LF, Garmes HM, Baptista MT, Teles MG, Costa EM, Mohammadi M, Pitteloud N, Mendonca BB, Latronico AC
  Title
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
  Journal
J Clin Endocrinol Metab 95:3491-6 (2010)
DOI:10.1210/jc.2010-0176

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