KEGG   VARIANT: 27445v1
Entry
27445v1                      Variant                               
Name
PCLO mutation
Type
Loss of function
Gene
PCLO  piccolo presynaptic cytomatrix protein [KO:K16882]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604918
Network
nt06541  Cytoskeleton in neurons
Disease
H00897  Pontocerebellar hypoplasia
Reference
PMID:25832664
  Authors
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
  Title
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
  Journal
Neurology 84:1745-50 (2015)
DOI:10.1212/WNL.0000000000001523
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