KEGG   VARIANT: 57082v1
Entry
57082v1                      Variant                               
Name
KNL1 mutation
Type
Loss of function
Gene
KNL1  kinetochore scaffold 1 [KO:K11542]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609173
Network
nt06515  Regulation of kinetochore-microtubule interactions
Disease
H00269  Primary microcephaly
Reference
PMID:26626498
  Authors
Saadi A, Verny F, Siquier-Pernet K, Bole-Feysot C, Nitschke P, Munnich A, Abada-Dendib M, Chaouch M, Abramowicz M, Colleaux L
  Title
Refining the phenotype associated with CASC5 mutation.
  Journal
Neurogenetics 17:71-8 (2016)
DOI:10.1007/s10048-015-0468-7
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