KEGG   VARIANT: 8792v1
Entry
8792v1                      Variant                                
Name
TNFRSF11A mutation
Type
Loss of function
Gene
TNFRSF11A  TNF receptor superfamily member 11a [KO:K05147]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603499
Network
nt06516  TNF signaling
Disease
H00436  Osteopetrosis
Reference
  Authors
Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A
  Title
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
  Journal
Am J Hum Genet 83:64-76 (2008)
DOI:10.1016/j.ajhg.2008.06.015
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