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P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients

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  • معلومة اضافية
    • بيانات النشر:
      Elsevier, 2024.
    • الموضوع:
      2024
    • Collection:
      LCC:Genetics
      LCC:Medicine
    • File Description:
      electronic resource
    • ISSN:
      2949-7744
    • Relation:
      http://www.sciencedirect.com/science/article/pii/S2949774424006733; https://doaj.org/toc/2949-7744
    • الرقم المعرف:
      10.1016/j.gimo.2024.101527
    • الرقم المعرف:
      edsdoj.0c5d8cf620c34b659315f1d73587944f