KEGG   VARIANT: 2261v4
Entry
2261v4                      Variant                                
Name
FGFR3 mutation
Type
Gain of function
Gene
FGFR3  fibroblast growth factor receptor 3 [KO:K05094]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 134934
Network
nt06526  MAPK signaling
nt06530  PI3K signaling
Disease
H01754  Crouzon syndrome
H01990  Muenke syndrome
H02627  Epidermal nevus
Reference
PMID:32879300
  Authors
Xie Y, Su N, Yang J, Tan Q, Huang S, Jin M, Ni Z, Zhang B, Zhang D, Luo F, Chen H, Sun X, Feng JQ, Qi H, Chen L
  Title
FGF/FGFR signaling in health and disease.
  Journal
Signal Transduct Target Ther 5:181 (2020)
DOI:10.1038/s41392-020-00222-7
Reference
PMID:29044700
  Authors
Asch S, Sugarman JL
  Title
Epidermal nevus syndromes: New insights into whorls and swirls.
  Journal
Pediatr Dermatol 35:21-29 (2018)
DOI:10.1111/pde.13273
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