KEGG   VARIANT: 347688v1
Entry
347688v1                      Variant                              
Name
TUBB8 mutation
Type
Loss of function
Gene
TUBB8  tubulin beta 8 class VIII [KO:K07375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 616768
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H01897  Oocyte/zygote/embryo maturation arrest
Reference
  Authors
Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ, Wang L
  Title
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
  Journal
N Engl J Med 374:223-32 (2016)
DOI:10.1056/NEJMoa1510791
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