KEGG   VARIANT: 57192v1
Entry
57192v1                      Variant                               
Name
MCOLN1 mutation
Type
Loss of function
Gene
MCOLN1  mucolipin-1 [KO:K04992]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605248
Network
nt06528  Calcium signaling
nt06551  Lysosome
Disease
H00144  Mucolipidosis IV
H02822  Lisch epithelial corneal dystrophy
Reference
  Authors
Boudewyn LC, Walkley SU
  Title
Current concepts in the neuropathogenesis of mucolipidosis type IV.
  Journal
J Neurochem 148:669-689 (2019)
DOI:10.1111/jnc.14462
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