1 Matching Annotations
  1. Last 7 days
  2. drive.google.com drive.google.com
    Yamagushi_et_al_2006_humu.20339_SupplementTables.pdf
    1
    1. stephaniemelby 02 Aug 2024

      Case: Patient #15, Female

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      Variant: NM_000531.6: c.77+1G>A

      ClinVarID: 97313

      CAID: CA224773

      gnomAD:

      c.77+1G>A ClinVarID: 97313 CAID: CA224773 PMID: 16786505 Gene: OTC
    Visit annotations in context

    Tags

    Annotators

    URL

    drive.google.com/file/d/1vgT5x8GOZ9GUtmg9IC2Z_c-WiGQLkrPT/view