KEGG   VARIANT: 7846v1
Entry
7846v1                      Variant                                
Name
TUBA1A mutation
Type
Loss of function
Gene
TUBA1A  tubulin alpha 1a [KO:K07374]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602529
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H00268  Lissencephaly
Reference
PMID:17218254
  Authors
Keays DA, Tian G, Poirier K, Huang GJ, Siebold C, Cleak J, Oliver PL, Fray M, Harvey RJ, Molnar Z, Pinon MC, Dear N, Valdar W, Brown SD, Davies KE, Rawlins JN, Cowan NJ, Nolan P, Chelly J, Flint J
  Title
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.
  Journal
Cell 128:45-57 (2007)
DOI:10.1016/j.cell.2006.12.017
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