KEGG   VARIANT: 8600v1
Entry
8600v1                      Variant                                
Name
TNFSF11 mutation
Type
Loss of function
Gene
TNFSF11  TNF superfamily member 11 [KO:K05473]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602642
Network
nt06516  TNF signaling
Disease
H00436  Osteopetrosis
Reference
  Authors
Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH
  Title
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
  Journal
Nat Genet 39:960-2 (2007)
DOI:10.1038/ng2076
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