KEGG   VARIANT: 5063v1
Entry
5063v1                      Variant                                
Name
PAK3 mutation
Type
Loss of function
Gene
PAK3  p21 (RAC1) activated kinase 3 [KO:K05733]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300142
Network
nt06546  IgSF CAM signaling
Disease
H00480  X-linked intellectual developmental disorder
Reference
PMID:9731525
  Authors
Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA
  Title
PAK3 mutation in nonsyndromic X-linked mental retardation.
  Journal
Nat Genet 20:25-30 (1998)
DOI:10.1038/1675
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