KEGG   VARIANT: 54820v1
Entry
54820v1                      Variant                               
Name
NDE1 mutation
Type
Loss of function
Gene
NDE1  nudE neurodevelopment protein 1 [KO:K16738]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609449
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H00268  Lissencephaly
H01870  Microhydranencephaly
Reference
PMID:21529752
  Authors
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG
  Title
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
  Journal
Am J Hum Genet 88:523-35 (2011)
DOI:10.1016/j.ajhg.2011.03.019
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