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  1. Nov 2018
  2. www.cell.com www.cell.com
    PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
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    1. cthaxton 09 Nov 2018
      PLAA
      ClinGen gene:PLAA pmid:28413018 doi:10.1016/j.ajhg.2017.03.008
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    cell.com/ajhg/fulltext/S0002-9297(17)30113-1