1 Matching Annotations
  1. Dec 2023
  2. 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. Jessie_HOU 17 Dec 2023
      de novo variant (c.2738_2739delAT [p.Tyr913∗])

      Case: DiseaseAssertion: FamilyInfo: CasePresentingHPOs: CaseHPOFreeText: CaseNOTHPOs: CaseNOTHPOFreeText: CasePreviousTesting: GenotypingMethod: PreviouslyPublished: as applicable SupplementalData: as applicable Variant: ClinVarID: A curator only needs to include either a ClinVarID or CAID, not both. CAID: d gnomAD: VariantEvidence: Only use if applicable

      gnomAD frequency clinVar ID
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/