5 Matching Annotations
  1. Dec 2019
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    1
    1. may_flowers 20 Dec 2019
      Platyspondyly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926

      ClinGen hpoLookup monarchLookup HP:0000926 hpoLookup:individual individual:1 gene:RINT1
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    sciencedirect.com/science/article/pii/S0002929719301983
  3. Aug 2019
  4. www.cell.com www.cell.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    4
    1. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:5 gene:EXTL3
    2. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:4 gene:EXTL3
    3. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:3 gene:EXTL3
    4. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:1 gene:EXTL3
    Visit annotations in context

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    URL

    cell.com/ajhg/fulltext/S0002-9297(17)30013-7