5 Matching Annotations
  1. Dec 2019
  2. 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
  3. 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/
  4. Sep 2019
  5. 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
    2
    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
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/