{"id":"W2101466601","doi":"10.1136/jmedgenet-2014-102952","title":"Disruption of <i>CLPB</i> is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"CLPB; Microcephaly; Biology; Genetics; Encephalopathy; Population; Internal medicine; Gene; Medicine; Mutant","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001403964,0.001477862,0.0004384512,0.0008864804,0.0004279697,0.0002105291,0.0004395372,0.0008271241,0.002444896],"category_scores_gemma":[0.0004930029,0.0002346422,0.000331625,0.0003502148,0.001001891,0.0001378837,0.0006312059,0.0005707725,0.0004350662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003127908,"about_ca_system_score_gemma":0.0002896382,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001621697,"about_ca_topic_score_gemma":0.002038957,"domain_scores_codex":[0.9998021,0.00001900506,0.0000315171,0.0000689369,0.00005006287,0.00002850701],"domain_scores_gemma":[0.9994511,0.000120189,0.0002640074,0.00002038517,0.00002412935,0.0001200544],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006660736,0.00009750139,0.01542819,0.0001776532,0.0001145623,0.1053855,0.0002575325,0.0004393925,0.8713853,0.0003159696,0.0005449597,0.005187347],"study_design_scores_gemma":[0.0001843395,0.001175766,0.2242497,0.0001039518,0.0003402013,0.4481937,0.0003434896,0.002296502,0.3166606,0.0005683893,0.005794572,0.00008880862],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960952,0.0003407429,0.001899816,0.0001397926,0.00002584878,0.00003420409,0.0004387088,0.0001489756,0.0008766627],"genre_scores_gemma":[0.9972492,0.0001871007,0.001391702,0.00007200411,0.00002728535,0.00002552817,0.0003394547,0.00005358398,0.0006540421],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002444896,"threshold_uncertainty_score":0.008179009,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01510253260724256,"score_gpt":0.2645534626335096,"score_spread":0.249450930026267,"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."}}