KEGG   VARIANT: 27229v1
Entry
27229v1                      Variant                               
Name
TUBGCP4 mutation
Type
Loss of function
Gene
TUBGCP4  tubulin gamma complex component 4 [KO:K16571]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609610
Network
nt06515  Regulation of kinetochore-microtubule interactions
Disease
H01880  Autosomal recessive microcephaly and chorioretinopathy
Reference
  Authors
Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strahle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H
  Title
Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
  Journal
Am J Hum Genet 96:666-74 (2015)
DOI:10.1016/j.ajhg.2015.02.011
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