KEGG   VARIANT: 7283v1
Entry
7283v1                      Variant                                
Name
TUBG1 mutation
Type
Loss of function
Gene
TUBG1  tubulin gamma-1 chain [KO:K10389]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191135
Network
nt06515  Regulation of kinetochore-microtubule interactions
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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