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A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

Miriama OstrozovicovaRobert JechDora SteelPetra PavelekovaVladimir HanZuzana GdovinovaPeter LichtnerManju A KurianSarah WiethoffHenry HouldenPetra HavránkováJulianne WinkelmannMichael ZechMatej Skorvanek
Published in: Movement disorders : official journal of the Movement Disorder Society (2021)
Keyphrases
  • early onset
  • late onset
  • deep brain stimulation