4 Matching Annotations
  1. Oct 2019
  2. 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
  3. Sep 2019
  4. 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. cthaxton 27 Sep 2019

      allele id lookup result

      ClinGen alleleLookup allele:CA346813374 alleleLookup:individual individual:2 gene:FBXO11
    2. cthaxton 11 Sep 2019
      Seizures

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001250

      ClinGen hpoLookup monarchLookup HP:0001250 hpoLookup:individual individual:2 gene:FBXO11
    3. cthaxton 11 Sep 2019
      22 mo

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0031936

      ClinGen hpoLookup monarchLookup HP:0031936 hpoLookup:individual individual:2 gene:FBXO11
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/