KEGG   VARIANT: 8318v1
Entry
8318v1                      Variant                                
Name
CDC45 mutation
Type
Loss of function
Gene
CDC45  cell division cycle 45 [KO:K06628]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603465
Network
nt06509  DNA replication
Disease
H01889  Meier-Gorlin syndrome
Reference
  Authors
Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS
  Title
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
  Journal
Am J Hum Genet 99:125-38 (2016)
DOI:10.1016/j.ajhg.2016.05.019
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