KEGG   VARIANT: 23321v1
Entry
23321v1                      Variant                               
Name
TRIM2 mutation
Type
Loss of function
Gene
TRIM2  tripartite motif containing 2 [KO:K11997]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614141
Network
nt06541  Cytoskeleton in neurons
Disease
H00264  Charcot-Marie-Tooth disease
Reference
PMID:23562820
  Authors
Ylikallio E, Poyhonen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lonnqvist T, Tyynismaa H
  Title
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
  Journal
Hum Mol Genet 22:2975-83 (2013)
DOI:10.1093/hmg/ddt149
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