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

      Case: Patient #85, Male

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNOTHPOs: Late Onset

      CaseNOTHPOFreeText: Milder phenotype

      CasePreviousTesting: N/A

      Variant: NM_000531.6: c.298+1G>T

      ClinVarID: 97160

      CAID: CA224544

      gnomAD:

      c.298+1G>T ClinVarID: 97160 CAID: CA224544 Gene: OTC PMID: 16786505
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