KEGG   VARIANT: 288v1
Entry
288v1                      Variant                                 
Name
ANK3 mutation
Type
Loss of function
Gene
ANK3  ankyrin 3 [KO:K09259]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600465
Network
nt06546  IgSF CAM signaling
Disease
H00768  Autosomal recessive intellectual developmental disorder
Reference
  Authors
Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L
  Title
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
  Journal
Hum Mol Genet 22:1960-70 (2013)
DOI:10.1093/hmg/ddt043
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