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: