KEGG   VARIANT: 81027v1
Entry
81027v1                      Variant                               
Name
TUBB1 mutation
Type
Loss of function
Gene
TUBB1  tubulin beta 1 class VI [KO:K07375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612901
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H01740  Macrothrombocytopenia
Reference
PMID:18849486
  Authors
Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H
  Title
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.
  Journal
Blood 113:458-61 (2009)
DOI:10.1182/blood-2008-06-162610
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