8 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    6
    1. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:8 gene:TAOK1
    2. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:7 gene:TAOK1
    3. 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
    4. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:5 gene:TAOK1
    5. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:2 gene:TAOK1
    6. may_flowers 05 Jan 2020
      muscular hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 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
      Hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:family family:2 gene:NUP214
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    sciencedirect.com/science/article/pii/S0002929719301892
  5. Nov 2019
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
    1
    1. mjairath 19 Nov 2019
      hypotonia

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

      ClinGen hpoLookup monarchLookup HP:0001252 hpoLookup:individual individual:1 gene:TNNT3
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    ncbi.nlm.nih.gov/pmc/articles/PMC5805634/