KEGG   VARIANT: 8074v2
Entry
8074v2                      Variant                                
Name
FGF23 gain of function mutation
Type
Gain of function
Gene
FGF23  fibroblast growth factor 23 [KO:K22428]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605380
Network
nt06325  Hormone/cytokine signaling
Disease
H00214  Hypophosphatemic rickets
Reference
PMID:11062477
  Title
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
  Journal
Nat Genet 26:345-8 (2000)
DOI:10.1038/81664
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