2 Matching Annotations
  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
    1
    1. cthaxton 09 Nov 2018

      Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?11968;

      ClinGen hpoLookup mseqdrLookup gene:PLAA
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    cell.com/ajhg/fulltext/S0002-9297(17)30113-1
  3. Jul 2018
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
    1
    1. cthaxton 15 Jul 2018

      Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?4060;

      ClinGen hpoLookup mseqdrLookup gene:EXTL3
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    ncbi.nlm.nih.gov/pmc/articles/PMC5339678/