KEGG   VARIANT: 22941v1
Entry
22941v1                      Variant                               
Name
SHANK2 mutation
Type
Loss of function
Gene
SHANK2  SH3 and multiple ankyrin repeat domains 2 [KO:K15009]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603290
Network
nt06544  Neuroactive ligand signaling
Disease
H02111  Autism
Reference
PMID:20473310
  Authors
Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA
  Title
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
  Journal
Nat Genet 42:489-91 (2010)
DOI:10.1038/ng.589
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