KEGG   VARIANT: 10749v1
Entry
10749v1                      Variant                               
Name
KIF1C mutation
Type
Loss of function
Gene
KIF1C  kinesin family member 1C [KO:K10392]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603060
Network
nt06541  Cytoskeleton in neurons
Disease
H01351  Spastic ataxia
Reference
PMID:24319291
  Authors
Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S
  Title
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
  Journal
J Med Genet 51:137-42 (2014)
DOI:10.1136/jmedgenet-2013-102012
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