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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.

Cesar Chacaltana-VinasPatricia Ramirez-PajaresAlid Manrique-PalominoAmanda R ClauseAditi ChawlaErin ThorpeRyan TaftAndrea Rivera-ValdiviaElison H Sarapura-CastroJeny Bazalar-MontoyaMario R Cornejo-Olivas
Published in: Movement disorders clinical practice (2024)
Keyphrases
  • early onset
  • deep brain stimulation
  • copy number
  • genome wide
  • genome wide identification
  • gene expression