KEGG   VARIANT: 5530v2
Entry
5530v2                      Variant                                
Name
PPP3CA gain-of-function mutation
Type
Gain of function
Gene
PPP3CA  protein phosphatase 3 catalytic subunit alpha [KO:K04348]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114105
Network
nt06528  Calcium signaling
Disease
H02641  Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Reference
PMID:29432562
  Authors
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N
  Title
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
  Journal
Hum Mol Genet 27:1421-1433 (2018)
DOI:10.1093/hmg/ddy052
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