KEGG   VARIANT: 5000v1
Entry
5000v1                      Variant                                
Name
ORC4 mutation
Type
Loss of function
Gene
ORC4  origin recognition complex subunit 4 [KO:K02606]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603056
Network
nt06509  DNA replication
Disease
H01889  Meier-Gorlin syndrome
Reference
  Authors
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME
  Title
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
  Journal
Nat Genet 43:360-4 (2011)
DOI:10.1038/ng.777
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