4 Matching Annotations
  1. Sep 2019
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    2
    1. ppascual 16 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
    2. ppascual 16 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
  3. Aug 2019
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    2
    1. megan_mayers 12 Aug 2019
      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
    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:1 gene:EXTL3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5294674/