KEGG   VARIANT: 58484v1
Entry
58484v1                      Variant                               
Name
NLRC4 mutation
Type
Gain of function
Gene
NLRC4  NLR family CARD domain containing 4 [KO:K12805]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606831
Network
nt06521  NLR signaling
Disease
H01748  NLRC4 inflammasomopathy
H02159  Familial cold autoinflammatory syndrome
Reference
PMID:34635190
  Authors
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N
  Title
Molecular biology of autoinflammatory diseases.
  Journal
Inflamm Regen 41:33 (2021)
DOI:10.1186/s41232-021-00181-8
Reference
PMID:29846819
  Authors
Harapas CR, Steiner A, Davidson S, Masters SL
  Title
An Update on Autoinflammatory Diseases: Inflammasomopathies.
  Journal
Curr Rheumatol Rep 20:40 (2018)
DOI:10.1007/s11926-018-0750-4
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