KEGG   VARIANT: 1848v1
Entry
1848v1                      Variant                                
Name
DUSP6 mutation
Type
Loss of function
Gene
DUSP6  dual specificity phosphatase 6 [KO:K21946]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602748
Network
nt06526  MAPK signaling
Disease
H00255  Hypogonadotropic hypogonadism
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
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