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    Yamagushi_et_al_2006_humu.20339_SupplementTables.pdf
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    1. stephaniemelby 02 Aug 2024

      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:

      c.140dup PMID: 16786505 Gene: OTC Mutation: Frameshift
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