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Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation

  • Steven Erwood
  • Reid A. Brewer
  • Teija M.I. Bily
  • Eleonora Maino
  • Liangchi Zhou
  • Ronald D. Cohn
  • Evgueni A. Ivakine
  • First Published November 21, 2019
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