KEGG   VARIANT: 23229v1
Entry
23229v1                      Variant                               
Name
ARHGEF9 mutation
Type
Loss of function
Gene
ARHGEF9  rho guanine nucleotide exchange factor 9 isoform 1 [KO:K20686]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300429
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
Reference
PMID:21633362
  Authors
Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T
  Title
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
  Journal
J Hum Genet 56:561-5 (2011)
DOI:10.1038/jhg.2011.58
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