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  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up
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    pmc.ncbi.nlm.nih.gov/articles/PMC8504897/
  3. Nov 2017
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    The background puzzle: how identical mutations in the same gene lead to different disease symptoms
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    onlinelibrary.wiley.com/doi/10.1111/febs.14080/full
  5. Oct 2017
  6. www.biorxiv.org www.biorxiv.org
    Modified penetrance of coding variants by cis-regulatory variation shapes human traits
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    biorxiv.org/content/biorxiv/early/2017/09/18/190397.full.pdf