1 Matching Annotations
  1. Aug 2024
    1. Case: Patient #32, Female

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: N/A

      Variant: NM_000531.6: c.140dup (p.(Asn47LysfsTer8))

      ClinVarID:

      CAID:

      gnomAD: