22 Matching Annotations
  1. Sep 2020
  2. localhost:8001 localhost:8001
    https://localhost:8001/test.html
    1
    1. judell 16 Sep 2020

      variant id lookup result: http://localhost:8001/test.html

      ClinGen variantLookup variant:426075 variantLookup:individual individual:1 gene:TMEM260
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    localhost:8001/test.html
  3. Jan 2020
  4. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S000292971930432X
    1
    1. megan_mayers 15 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/72912/

      ClinGen variantLookup variant:72912 variantLookup:individual individual:1 gene:MN1
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    sciencedirect.com/science/article/pii/S000292971930432X
  5. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301636
    5
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
    2. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/

      ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
    3. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/

      ClinGen variantLookup variant:692269 variantLookup:individual individual:4 gene:DNAH17
    4. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:2 gene:DNAH17
    5. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/

      ClinGen variantLookup variant:692268 variantLookup:individual individual:1 gene:DNAH17
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    sciencedirect.com/science/article/pii/S0002929719301636
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
    2
    1. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:3 gene:DNAH17
    2. may_flowers 05 Jan 2020

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/

      ClinGen variantLookup variant:692266 variantLookup:individual individual:1 gene:DNAH17
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    ncbi.nlm.nih.gov/clinvar/variation/692266/
  7. Dec 2019
  8. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301983
    6
    1. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/

      ClinGen variantLookup variant:547946 variantLookup:individual individual:1 gene:RINT1
    2. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/

      ClinGen variantLookup variant:692227 variantLookup:individual individual:2 gene:RINT1
    3. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/

      ClinGen variantLookup variant:547947 variantLookup:individual individual:1 gene:RINT1
    4. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/

      ClinGen variantLookup variant:547947 variantLookup:individual individual:3 gene:RINT1
    5. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/

      ClinGen variantLookup variant:599396 variantLookup:individual individual:3 gene:RINT1
    6. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/

      ClinGen variantLookup variant:692228 variantLookup:individual individual:2 gene:RINT1
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    sciencedirect.com/science/article/pii/S0002929719301983
  9. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    1
    1. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634925/

      ClinGen variantLookup variant:634925 variantLookup:family family:2 gene:NUP214
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    sciencedirect.com/science/article/pii/S0002929719301892
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
    2
    1. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634924/

      ClinGen variantLookup variant:634924 variantLookup:family family:2 gene:NUP214
    2. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/

      ClinGen variantLookup variant:545116 variantLookup:family family:1 gene:NUP214
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    ncbi.nlm.nih.gov/clinvar/variation/545116/
  11. Oct 2019
  12. 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 01 Oct 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/559601/

      ClinGen variantLookup variant:559601 variantLookup:individual individual:1 gene:FBXO11
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
  13. Sep 2019
  14. 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
    3
    1. ppascual 16 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
    2. ppascual 16 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
    3. cthaxton 11 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:559600 variantLookup:individual individual:1 gene:FBXO11
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/