KEGG   VARIANT: 9895v1
Entry
9895v1                      Variant                                
Name
TECPR2 mutation
Type
Loss of function
Gene
TECPR2  tectonin beta-propeller repeat containing 2 [KO:K23881]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615000
Network
nt06532  Autophagy
Disease
H00265  Hereditary sensory and autonomic neuropathy
Reference
PMID:28553203
  Authors
Haidar M, Timmerman V
  Title
Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.
  Journal
Front Mol Neurosci 10:143 (2017)
DOI:10.3389/fnmol.2017.00143
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