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4 Matching Annotations
  1. Aug 2019
  2. www.cell.com www.cell.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    4
    1. megan_mayers 12 Aug 2019
      in Public
      disproportionate stature

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

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:5 gene:EXTL3
    2. megan_mayers 12 Aug 2019
      in Public
      disproportionate stature

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

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:4 gene:EXTL3
    3. megan_mayers 12 Aug 2019
      in Public
      disproportionate stature

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

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:3 gene:EXTL3
    4. megan_mayers 12 Aug 2019
      in Public
      disproportionate stature

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

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:1 gene:EXTL3
    Visit annotations in context

    Tags

    • monarchLookup
    • HP:0003498
    • family:4
    • hpoLookup
    • family:5
    • gene:EXTL3
    • phenotype:family
    • ClinGen
    • family:1
    • family:3

    Annotators

    • megan_mayers

    URL

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