KEGG   VARIANT: 51807v1
Entry
51807v1                      Variant                               
Name
TUBA8 mutation
Type
Loss of function
Gene
TUBA8  tubulin alpha 8 [KO:K07374]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605742
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H01740  Macrothrombocytopenia
Reference
PMID:34704371
  Authors
Kimmerlin Q, Dupuis A, Bodakuntla S, Weber C, Heim V, Henriot V, Moog S, Eckly A, Gueguen P, Ferec C, Gachet C, Janke C, Lanza F
  Title
Mutations in the most divergent alpha-tubulin isotype, alpha8-tubulin, cause defective platelet biogenesis.
  Journal
J Thromb Haemost 20:461-469 (2022)
DOI:10.1111/jth.15573
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