4 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    1
    1. may_flowers 05 Jan 2020
      seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:4 gene:TAOK1
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    sciencedirect.com/science/article/pii/S0002929719301910
  3. Dec 2019
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    1
    1. may_flowers 16 Dec 2019
      intractable epilepsy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:1 gene:NUP214
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    sciencedirect.com/science/article/pii/S0002929719301892
  5. monarchinitiative.org monarchinitiative.org
    https://monarchinitiative.org/disease/MONDO:0005027
    1
    1. may_flowers 16 Dec 2019

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:family family:2 gene:NUP214
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    monarchinitiative.org/disease/MONDO:0005027
  6. Sep 2019
  7. 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
    1
    1. cthaxton 11 Sep 2019
      Seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:2 gene:FBXO11
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/