1 Matching Annotations
- Jul 2024
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drive.google.com drive.google.com
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Case: no patient #ID, female Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.663+2T>C
ClinVarID: 97285
CAID: CA224732
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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