KEGG   VARIANT: 3460v1
Entry
3460v1                      Variant                                
Name
IFNGR2 mutation
Type
Loss of function
Gene
IFNGR2  interferon gamma receptor 2 [KO:K05133]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147569
Network
nt06518  JAK-STAT signaling
Disease
H00089  IFN-gamma/IL-12 axis
Reference
PMID:9616207
  Authors
Dorman SE, Holland SM
  Title
Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.
  Journal
J Clin Invest 101:2364-9 (1998)
DOI:10.1172/JCI2901
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