KEGG   VARIANT: 57192v1
Entry
57192v1                      Variant                               
Name
MCOLN1 mutation
Type
Loss of function
Gene
MCOLN1  mucolipin TRP cation channel 1 [KO:K04992]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605248
Network
nt06528  Calcium signaling
Disease
H00144  Mucolipidosis IV
Reference
PMID:29770442
  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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