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

      Case: Patient #16, Male

      DiseaseAssertion: UCD/OTCD

      FamilyInfo: N/A

      CasePresentingHPOs: Neonatal onset (HP:0003623), Hyperammonemia (HP:0001987)

      CaseHPOFreeText:

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting: N/A

      Variant: NM_000531.6: c.77+2dupT

      ClinVarID: 567293

      CAID: CA891844248

      gnomAD:

      c.77+2dupT ClinVarID: 567293 CAID: CA891844248 PMID: 16786505 Gene: OTC
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