14 Matching Annotations
  1. Mar 2019
  2. www.nature.com www.nature.com
    https://www.nature.com/articles/s41589-018-0177-2
    5
    1. cthaxton 28 Mar 2019
      UBE2A
      ClinGen gene:UBE2A
    2. cthaxton 12 Mar 2019
      UBE2A
      ClinGen gene:UBE2A doi:10.1038/s41589-018-0177-2
    3. cthaxton 12 Mar 2019
      UBE2A
      ClinGen gene:UBE2A doi:10.1038/s41589-018-0177-2
    4. cthaxton 12 Mar 2019
      UBE2A
      ClinGen gene:UBE2A
    5. cthaxton 11 Mar 2019
      UBE2A
      ClinGen gene:UBE2A doi:10.1038/s41589-018-0177-2
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    nature.com/articles/s41589-018-0177-2
  3. Feb 2019
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    2
    1. cthaxton 21 Feb 2019
      UBE2A
      ClinGen gene:UBE2A pmid:24053514 doi:10.1186/1750-1172-8-146
    2. cthaxton 21 Feb 2019
      UBE2A
      ClinGen gene:UBE2A pmid:24053514 doi:10.1186/1750-1172-8-146
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    ncbi.nlm.nih.gov/pmc/articles/PMC4015352/
  5. Aug 2018
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
    2
    1. cthaxton 01 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001943

      ClinGen hpoLookup monarchLookup gene:UBE2A
    2. cthaxton 01 Aug 2018
      UBE2A
      ClinGen gene:UBE2A pmid:28611923 doi:10.1038/hgv.2017.19
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    ncbi.nlm.nih.gov/pmc/articles/PMC5462939/
  7. Jun 2018
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    2
    1. cthaxton 29 Jun 2018
      psychomotor development

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

      ClinGen hpoLookup monarchLookup gene:UBE2A
    2. cthaxton 29 Jun 2018
      UBE2A
      ClinGen gene:UBE2A pmid:24053514 doi:10.1186/1750-1172-8-146
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    ncbi.nlm.nih.gov/pmc/articles/PMC4015352/
  9. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559544/
    2
    1. cthaxton 20 Jun 2018
      Synophris

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000664

      ClinGen hpoLookup monarchLookup gene:UBE2A
    2. cthaxton 20 Jun 2018
      UBE2A
      ClinGen gene:UBE2A pmid:16909393 doi:10.1086/507047
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    ncbi.nlm.nih.gov/pmc/articles/PMC1559544/
  10. ojrd.biomedcentral.com ojrd.biomedcentral.com
    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-146
    1
    1. cthaxton 20 Jun 2018
      UBE2A
      ClinGen gene:UBE2A doi:10.1186/1750-1172-8-146
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    ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-146