KEGG   VARIANT: 7280v1
Entry
7280v1                      Variant                                
Name
TUBB2A mutation
Type
Loss of function
Gene
TUBB2A  tubulin beta 2A class IIa [KO:K07375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615101
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H01881  Complex cortical dysplasia with other brain malformations
Reference
PMID:24702957
  Authors
Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB
  Title
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
  Journal
Am J Hum Genet 94:634-41 (2014)
DOI:10.1016/j.ajhg.2014.03.009
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