KEGG   VARIANT: 5521v1
Entry
5521v1                      Variant                                
Name
PPP2R2B mutation
Type
Gain of function
Gene
PPP2R2B  protein phosphatase 2 regulatory subunit Bbeta [KO:K04354]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604325
Network
nt06530  PI3K signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
PMID:26340331
  Authors
O'Hearn EE, Hwang HS, Holmes SE, Rudnicki DD, Chung DW, Seixas AI, Cohen RL, Ross CA, Trojanowski JQ, Pletnikova O, Troncoso JC, Margolis RL
  Title
Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.
  Journal
Mov Disord 30:1813-1824 (2015)
DOI:10.1002/mds.26348
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