KEGG   VARIANT: 51284v1
Entry
51284v1                      Variant                               
Name
TLR7 mutation
Type
Loss of function
Gene
TLR7  toll like receptor 7 [KO:K05404]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300365
Network
nt06517  TLR signaling
Disease
H00096  Defects of toll-like receptor signaling
Reference
  Authors
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G, Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarstrom L, Pan-Hammarstrom Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL
  Title
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
  Journal
J Exp Med 219:e20220131 (2022)
DOI:10.1084/jem.20220131
LinkDB

DBGET integrated database retrieval system