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A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.

Thomas MusacchioMichael ZechMartin M ReichJuliane WinkelmannJens Volkmann
Published in: Annals of neurology (2021)
Keyphrases
  • deep brain stimulation
  • early onset
  • intellectual disability
  • autism spectrum disorder