KEGG   VARIANT: 84617v1
Entry
84617v1                      Variant                               
Name
TUBB6 mutation
Type
Loss of function
Gene
TUBB6  tubulin beta 6 class V [KO:K07375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615103
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H02594  Congenital facial palsy with ptosis and velopharyngeal dysfunction
Reference
PMID:29016863
  Authors
Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nurnberg G, Thoenes M, Becker J, Altmuller J, Volk AE, Kubisch C, Heller R
  Title
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
  Journal
Hum Mol Genet 26:4055-4066 (2017)
DOI:10.1093/hmg/ddx296
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