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Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Marianela SchiavaChiseko IkenagaAna TopfMarta Caballero-ÁvilaTsui-Fen ChouShan LiFeng WangJil DawKristl G ClaeysRocio Villar-QuilesIchizo NishinoMichio InoueYukako NishimoriYoshihiko SaitoMasahisa KatsunoSeiya NodaChihiro ItoMieko OtsukaSruthi NahirGeorgios ManousakisDavid WalkColin C QuinnLindsay AlfanoZarife SahenkGiorgio TascaMauro MonforteMario SabatelliGiulia BisogniAnders OldforsAnna RydeliusEndre PálCarmen ParadasBeatriz VelezJan L De BleeckerMaria Elena FarugiaCheryl LongmanMatthew B HarmsStuart H RalstonEdmar ZanoteliAndre Macedo Serafim da SilvaJavier SotocaRaul Juntas-MoralesJorge A BevilacquaMireya BalartStuart TalbotVolker StraubMichela GuglieriChiara Marini-BettoloJordi Diaz-ManeraConrad Chris Weihl
Published in: Neurology. Genetics (2023)
gene.
Keyphrases
  • copy number
  • genome wide
  • machine learning
  • genome wide identification
  • deep learning
  • dna methylation
  • binding protein
  • genome wide analysis
  • transcription factor
  • small molecule