1 Matching Annotations
- Aug 2024
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drive.google.com drive.google.com
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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:
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