ornithine carbamoyltransferase deficiency

Name
ornithine carbamoyltransferase deficiency
Ontological Reference
MONDO:0010703
ClinVar Variants
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External Resources
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Curated by Classification Date Report
Dosagesensitivity on Gene Dosage Sensitivity Sufficient Evidence for Haploinsufficiency 06/13/2017 View report
Clinicalactionability on Clinical Actionability View report for scoring details 02/21/2018 View report