202 Matching Annotations
  1. Jun 2018
  2. jem.rupress.org jem.rupress.org
    EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
    2
    1. cthaxton 20 Jun 2018
      KLHL4

      Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub

      ClinGen hpoLookup monarchLookup gene:EXTL3
    2. cthaxton 20 Jun 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
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    jem.rupress.org/content/214/3/623