{"id":"W2032118291","doi":"10.1159/000120594","title":"Leigh’s Disease with Clinical Manifestations of Cornelia de Lange Syndrome","year":2008,"lang":"en","type":"article","venue":"Pediatric Neurosurgery","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal University Hospital; University of Saskatchewan","funders":"","keywords":"Cornelia de Lange Syndrome; Medicine; Midbrain; Leigh disease; Pons; Disease; Central nervous system disease; Medulla; Pediatrics; Surgery; Pathology; Anatomy; Internal medicine; Central nervous system; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001822343,0.00008478787,0.0001281307,0.00006057408,0.00006205017,0.000005600103,0.0001020104,0.00004496247,0.00001173353],"category_scores_gemma":[0.0002799142,0.00007320374,0.00009117367,0.0001328539,0.00008218447,0.000003929445,0.00004357343,0.00009593804,0.00001015504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004101655,"about_ca_system_score_gemma":0.0002872426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001989905,"about_ca_topic_score_gemma":0.000003269935,"domain_scores_codex":[0.9990817,0.00008627688,0.000223073,0.0002216304,0.000154595,0.0002327312],"domain_scores_gemma":[0.9992948,0.0000899803,0.000080654,0.0002450103,0.00005970388,0.0002299115],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001354566,0.0001101028,0.9885458,0.00003155925,0.000009763384,0.001273894,0.000004138041,0.00002650949,0.004365338,0.000005190766,0.005424125,0.00006807473],"study_design_scores_gemma":[0.0002589929,0.0001988997,0.9981278,0.00000304707,0.00002359597,0.0003837218,0.000003710902,0.00004077004,0.0003389543,0.000006572006,0.0005156766,0.00009829213],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991022,0.0003039116,0.0002089687,0.00006636378,0.00007870057,0.00008675976,0.0000313371,0.00001140468,0.0001103246],"genre_scores_gemma":[0.9966965,0.0016483,0.0001150688,0.0001476917,0.0002263371,0.00001249712,0.00003606504,0.00001795532,0.001099583],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009581918,"threshold_uncertainty_score":0.2985162,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0335814132683978,"score_gpt":0.2894816478112672,"score_spread":0.2559002345428694,"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."}}