KEGG   VARIANT: 10616v1
Entry
10616v1                      Variant                               
Name
RBCK1 mutation
Gene
RBCK1  RANBP2-type and C3HC4-type zinc finger containing 1 [KO:K10630]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610924
Network
nt06516  TNF signaling
Disease
H01744  Polyglucosan body myopathy
Reference
PMID:28722725
  Authors
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL
  Title
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.
  Journal
Nat Immunol 18:832-842 (2017)
DOI:10.1038/ni.3777
Reference
PMID:28469620
  Authors
Aksentijevich I, Zhou Q
  Title
NF-kappaB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases.
  Journal
Front Immunol 8:399 (2017)
DOI:10.3389/fimmu.2017.00399
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