35 Matching Annotations
  1. Aug 2019
  2. www.cell.com www.cell.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    11
    1. megan_mayers 12 Aug 2019
      Lumbar gibbus

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:4 gene:EXTL3
    2. 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:5 gene:EXTL3
    3. 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:4 gene:EXTL3
    4. 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:3 gene:EXTL3
    5. 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:5 gene:EXTL3
    6. 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:4 gene:EXTL3
    7. 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:3 gene:EXTL3
    8. megan_mayers 12 Aug 2019
      Lumbar gibbus

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0008454 phenotype:family family:3 gene:EXTL3
    9. 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
    10. 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
    11. megan_mayers 12 Aug 2019
      EXTL3
      ClinGen gene:EXTL3 pmid:28132690
    Visit annotations in context

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    cell.com/ajhg/fulltext/S0002-9297(17)30013-7
  3. Aug 2018
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
    1
    1. judell 17 Aug 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
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    ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
    4
    1. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0004060

      ClinGen hpoLookup monarchLookup gene:EXTL3
    2. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375

      ClinGen hpoLookup monarchLookup gene:EXTL3
    3. cthaxton 03 Aug 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926

      ClinGen hpoLookup monarchLookup gene:EXTL3
    4. cthaxton 03 Aug 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
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    ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
  6. Jul 2018
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
    6
    1. cthaxton 15 Jul 2018

      ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417794/

      ClinGen variantIdLookup gene:EXTL3
    2. cthaxton 15 Jul 2018

      ClinVar variant ID lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/417796/

      ClinGen variantIdLookup gene:EXTL3
    3. cthaxton 15 Jul 2018

      Mseqdr lookup result: https://mseqdr.org/hpo_browser.php?4060;

      ClinGen hpoLookup mseqdrLookup gene:EXTL3
    4. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0003375

      ClinGen hpoLookup monarchLookup gene:EXTL3
    5. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000926

      ClinGen hpoLookup monarchLookup gene:EXTL3
    6. cthaxton 15 Jul 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
    Visit annotations in context

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    ncbi.nlm.nih.gov/pmc/articles/PMC5339678/
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
    7
    1. cthaxton 15 Jul 2018

      ClinGen allele ID lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_001440.3%3Ac.953C%3ET

      ClinGen alleleIdLookup gene:EXTL3
    2. cthaxton 15 Jul 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
    3. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005306

      ClinGen hpoLookup monarchLookup gene:EXTL3
    4. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0005280

      ClinGen hpoLookup monarchLookup gene:EXTL3
    5. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520

      ClinGen hpoLookup monarchLookup gene:EXTL3
    6. cthaxton 15 Jul 2018

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000520

      ClinGen hpoLookup monarchLookup gene:EXTL3
    7. cthaxton 15 Jul 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
    Visit annotations in context

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    ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
  9. Jun 2018
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
    3
    1. cthaxton 28 Jun 2018
      delayed motor development

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002194

      ClinGen hpoLookup monarchLookup gene:EXTL3
    2. cthaxton 28 Jun 2018
      hyperbilirubinemia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002904

      ClinGen hpoLookup monarchLookup gene:EXTL3
    3. cthaxton 28 Jun 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28331220 doi:10.1038/jhg.2017.38
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5537416/
  11. jem.rupress.org jem.rupress.org
    EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
    3
    1. cthaxton 20 Jun 2018
      KLHL4

      Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub

      ClinGen hpoLookup monarchLookup gene:EXTL3
    2. cthaxton 20 Jun 2018
      KLHL4

      Monarch lookup result: https://www.sciencedirect.com/science/article/pii/S0888754300964784?via%3Dihub

      ClinGen hpoLookup monarchLookup gene:EXTL3
    3. cthaxton 20 Jun 2018
      EXTL3
      ClinGen gene:EXTL3 pmid:28148688 doi:10.1084/jem.20161525
    Visit annotations in context

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    URL

    jem.rupress.org/content/214/3/623