19 Matching Annotations
  1. Jan 2020
  2. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719303489
    5
    1. megan_mayers 22 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300

      ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:5 gene:NKAP
    2. megan_mayers 22 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300

      ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:4 gene:NKAP
    3. megan_mayers 22 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193300

      ClinGen alleleLookup allele:CA414193300 alleleLookup:individual individual:3 gene:NKAP
    4. megan_mayers 22 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193319

      ClinGen alleleLookup allele:CA414193319 alleleLookup:individual individual:2 gene:NKAP
    5. megan_mayers 14 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414193321

      ClinGen alleleLookup allele:CA414193321 alleleLookup:individual individual:1 gene:NKAP
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    sciencedirect.com/science/article/pii/S0002929719303489
  3. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S000292971930432X
    2
    1. megan_mayers 15 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940579

      ClinGen alleleLookup allele:CA915940579 alleleLookup:individual individual:3 gene:MN1
    2. megan_mayers 15 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA411033555

      ClinGen alleleLookup allele:CA411033555 alleleLookup:individual individual:2 gene:MN1
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    sciencedirect.com/science/article/pii/S000292971930432X
  4. reg.clinicalgenome.org reg.clinicalgenome.org
    http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343
    1
    1. may_flowers 06 Jan 2020

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA915940549

      ClinGen alleleLookup allele:CA915940549 alleleLookup:individual individual:7 gene:TAOK1
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  5. reg.clinicalgenome.org reg.clinicalgenome.org
    http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399189115
    1
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398917343

      ClinGen alleleLookup allele:CA398917343 alleleLookup:individual individual:8 gene:TAOK1
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  6. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301910
    5
    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 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399196709

      ClinGen alleleLookup allele:CA399196709 alleleLookup:individual individual:5 gene:TAOK1
    3. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284

      ClinGen alleleLookup allele:CA398915284 alleleLookup:individual individual:3 gene:TAOK1
    4. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193661

      ClinGen alleleLookup allele:CA399193661 alleleLookup:individual individual:2 gene:TAOK1
    5. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399185143

      ClinGen alleleLookup allele:CA399185143 alleleLookup:individual individual:1 gene:TAOK1
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    sciencedirect.com/science/article/pii/S0002929719301910
  7. reg.clinicalgenome.org reg.clinicalgenome.org
    http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA398915284
    1
    1. may_flowers 06 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA399193709

      ClinGen alleleLookup allele:CA399193709 alleleLookup:individual individual:4 gene:TAOK1
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  8. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    1
    1. may_flowers 05 Jan 2020

      allele id lookup result: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA8805224

      ClinGen alleleLookup allele:CA8805224 alleleLookup:individual individual:1 gene:DNAH17
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    sciencedirect.com/science/article/pii/S0002929719301636
  9. Oct 2019
  10. reg.clinicalgenome.org reg.clinicalgenome.org
    https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374
    1
    1. cthaxton 01 Oct 2019

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346813374

      ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:1 gene:FBXO11
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  11. reg.clinicalgenome.org reg.clinicalgenome.org
    https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646
    1
    1. cthaxton 01 Oct 2019

      allele id lookup result: https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA346764646

      ClinGen alleleLookup allele:CA346764646 alleleLookup:individual individual:2 gene:developmental delay
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    reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid
  12. Sep 2019
  13. 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 27 Sep 2019

      allele id lookup result

      ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:2 gene:FBXO11
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/