KEGG   VARIANT: 113457v1
Entry
113457v1                      Variant                              
Name
TUBA3D mutaiton
Type
Loss of function
Gene
TUBA3D  tubulin alpha-3D chain [KO:K07374]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 617878
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H00789  Keratoconus
Reference
PMID:29051577
  Authors
Hao XD, Chen P, Zhang YY, Li SX, Shi WY, Gao H
  Title
De novo mutations of TUBA3D are associated with keratoconus.
  Journal
Sci Rep 7:13570 (2017)
DOI:10.1038/s41598-017-13162-0
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