15 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    14
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115

      ClinGen alleleLookup allele:CA399189115 alleleLookup:individual individual:6 gene:TAOK1
    2. may_flowers 05 Jan 2020
      down-slanting eyelid

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0200006

      ClinGen hpoLookup monarchLookup HP:0200006 hpoLookup:individual individual:6 gene:TAOK1
    3. may_flowers 05 Jan 2020
      short proximal extremities

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0009815

      ClinGen hpoLookup monarchLookup HP:0009815 hpoLookup:individual individual:6 gene:TAOK1
    4. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000175

      ClinGen hpoLookup monarchLookup HP:0000175 hpoLookup:individual individual:6 gene:TAOK1
    5. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000369

      ClinGen hpoLookup monarchLookup HP:0000369 hpoLookup:individual individual:6 gene:TAOK1
    6. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000316

      ClinGen hpoLookup monarchLookup HP:0000316 hpoLookup:individual individual:6 gene:TAOK1
    7. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000348

      ClinGen hpoLookup monarchLookup HP:0000348 hpoLookup:individual individual:6 gene:TAOK1
    8. may_flowers 05 Jan 2020
      6

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002003

      ClinGen hpoLookup monarchLookup HP:0002003 hpoLookup:individual individual:6 gene:TAOK1
    9. may_flowers 05 Jan 2020
      macrocephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000256

      ClinGen hpoLookup monarchLookup HP:0000256 hpoLookup:individual individual:6 gene:TAOK1
    10. may_flowers 05 Jan 2020
      muscular hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001252

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:6 gene:TAOK1
    11. may_flowers 05 Jan 2020
      intellectual disability

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001249

      ClinGen hpoLookup monarchLookup HP:0001249 hpoLookup:individual individual:6 gene:TAOK1
    12. may_flowers 05 Jan 2020
      motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001270

      ClinGen hpoLookup monarchLookup HP:0001270 hpoLookup:individual individual:6 gene:TAOK1
    13. may_flowers 05 Jan 2020
      speech and language development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000750

      ClinGen hpoLookup monarchLookup HP:0000750 hpoLookup:individual individual:6 gene:TAOK1
    14. may_flowers 05 Jan 2020
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:individual individual:6 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/S0002929719302411
    1
    1. megan_mayers 23 Dec 2019
      General hypotonia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001290

      ClinGen hpoLookup monarchLookup HP:0001290 hpoLookup:individual individual:6 gene:POLR2A
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0002929719302411