KEGG   VARIANT: 990v1
Entry
990v1                      Variant                                 
Name
CDC6 mutation
Type
Loss of function
Gene
CDC6  cell division cycle 6 [KO:K02213]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602627
Network
nt06509  DNA replication
Disease
H01889  Meier-Gorlin syndrome
Reference
  Authors
Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP
  Title
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
  Journal
Nat Genet 43:356-9 (2011)
DOI:10.1038/ng.775
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