{"id":"W1980133351","doi":"10.1002/humu.21215","title":"Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency","year":2010,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Enhancer; Biology; Promoter; Molecular biology; Genetics; Ornithine Carbamoyltransferase; Transcription factor; Reporter gene; Regulatory sequence; Transcription (linguistics); Untranslated region; Gene; Gene expression; Ornithine; Messenger RNA; Arginine; Amino acid","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008834857,0.0006037977,0.0003444264,0.0005513274,0.0003583823,0.0001761138,0.0001988014,0.0008365745,0.001148236],"category_scores_gemma":[0.0004765163,0.0002127546,0.0003453696,0.0002797268,0.0004324088,0.0001069935,0.0002701086,0.0006134087,0.0002382494],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002775974,"about_ca_system_score_gemma":0.0001909637,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001111776,"about_ca_topic_score_gemma":0.0008203033,"domain_scores_codex":[0.9998616,0.00002095681,0.00001613938,0.00005490746,0.00002311685,0.00002333903],"domain_scores_gemma":[0.9997737,0.0001006482,0.00004482796,0.000012598,0.000008584694,0.00005967917],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.001129629,0.0003211195,0.03741842,0.0001030219,0.00005805228,0.3219982,0.0006254174,0.0006741431,0.6249903,0.0005591461,0.0002753821,0.01184715],"study_design_scores_gemma":[0.0001766648,0.001023152,0.07228187,0.00003366476,0.0001200011,0.7127512,0.0002087676,0.003787017,0.2065885,0.0004165049,0.002557255,0.00005533996],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981049,0.0001260322,0.001106447,0.0001470699,0.000012809,0.00001258302,0.00009374055,0.00005212037,0.000344172],"genre_scores_gemma":[0.9984115,0.00007680943,0.0009909105,0.00005788068,0.00001068965,0.000006212093,0.00007093813,0.00001697195,0.0003580292],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001148236,"threshold_uncertainty_score":0.003841221,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00518225214367053,"score_gpt":0.2512028972452272,"score_spread":0.2460206451015566,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}