VARIANT: 3661v1
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Entry
3661v1 Variant
Name
IRF3 mutation
Type
Loss of function
Gene
IRF3
interferon regulatory factor 3 [KO:
K05411
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
603734
Network
nt06517
TLR signaling
Disease
H02536
Infection-induced acute encephalopathy
Reference
PMID:
26216125
Authors
Andersen LL, Mork N, Reinert LS, Kofod-Olsen E, Narita R, Jorgensen SE, Skipper KA, Honing K, Gad HH, Ostergaard L, Orntoft TF, Hornung V, Paludan SR, Mikkelsen JG, Fujita T, Christiansen M, Hartmann R, Mogensen TH
Title
Functional IRF3 deficiency in a patient with herpes simplex encephalitis.
Journal
J Exp Med 212:1371-9 (2015)
DOI:
10.1084/jem.20142274
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integrated database retrieval system
