KEGG   VARIANT: 8074v1
Entry
8074v1                      Variant                                
Name
FGF23 mutation
Type
Loss 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
H01193  Familial tumoral calcinosis
Reference
PMID:15590700
  Authors
Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B
  Title
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
  Journal
Hum Mol Genet 14:385-90 (2005)
DOI:10.1093/hmg/ddi034
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