1 Matching Annotations
- Aug 2024
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drive.google.com drive.google.com
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Case: Patient #7, Female
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: N/A
Variant: NM_000531.6: c.29_32del (p.Asn10fs)
ClinVarID: 97157
CAID: CA224540
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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