1 Matching Annotations
- Jul 2024
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drive.google.com drive.google.com
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Case: patient #212, female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: No specific functional tests indicated
Supplemental Data: In supplemental data files
Variant: NM_000531.6:c.561delA(p.Gly188Valfs*18)
ClinVarID: N/A
CAID: CA2499307429
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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