KEGG   VARIANT: 3800v1
Entry
3800v1                      Variant                                
Name
KIF5C mutation
Type
Loss of function
Gene
KIF5C  kinesin family member 5C [KO:K10396]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604593
Network
nt06541  Cytoskeleton in neurons
Disease
H01881  Complex cortical dysplasia with other brain malformations
Reference
  Authors
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Genevieve D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J
  Title
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
  Journal
Nat Genet 45:639-47 (2013)
DOI:10.1038/ng.2613
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