3 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. 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. cthaxton 01 Oct 2019
      developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:group group:1 gene:developmental delay
    2. cthaxton 01 Oct 2019
      developmental delay
      ClinGen gene:developmental delay pmid:30057029
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/