KEGG   VARIANT: 11113v1
Entry
11113v1                      Variant                               
Name
CIT mutation
Type
Loss of function
Gene
CIT  citron rho-interacting serine/threonine kinase [KO:K16308]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605629
Network
nt06541  Cytoskeleton in neurons
Disease
H00269  Primary microcephaly
Reference
PMID:27453578
  Authors
Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Caglayan AO, Kaymakcalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG.
  Title
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
  Journal
Am J Hum Genet 99:501-10 (2016)
DOI:10.1016/j.ajhg.2016.07.004
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