1 Matching Annotations
- Last 7 days
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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:
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