KEGG   VARIANT: 7099v1
Entry
7099v1                      Variant                                
Name
TLR4 mutation
Type
Gain of function
Gene
TLR4  toll like receptor 4 [KO:K10160]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603030
Network
nt06517  TLR signaling
nt06527  Necroptosis
Disease
H00821  Age-related macular degeneration
Reference
  Authors
Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A
  Title
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.
  Journal
Hum Mol Genet 14:1449-55 (2005)
DOI:10.1093/hmg/ddi154
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