{"id":"W2142234120","doi":"10.1212/wnl.0b013e31828f1914","title":"<i>NUBPL</i> mutations in patients with complex I deficiency and a distinct MRI pattern","year":2013,"lang":"en","type":"article","venue":"Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"National Institute of Neurological Disorders and Stroke; ZonMw","keywords":"Exome sequencing; Corpus callosum; White matter; Mutation; Biology; Gene; Exome; Genetics; Leigh disease; Magnetic resonance imaging; Pathology; Medicine; Anatomy","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":[0.0002418048,0.001350108,0.0005245951,0.001268224,0.0007352971,0.0005261241,0.0003631854,0.0009001271,0.001490149],"category_scores_gemma":[0.001302156,0.0003008107,0.0003141482,0.0005389281,0.0006618964,0.0003726592,0.0004810743,0.0003538506,0.0003153645],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002858909,"about_ca_system_score_gemma":0.0002510518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008097601,"about_ca_topic_score_gemma":0.0005949637,"domain_scores_codex":[0.9997259,0.00002465482,0.00004522519,0.0001217571,0.00003776977,0.00004470905],"domain_scores_gemma":[0.9995183,0.00009625518,0.0001842754,0.00003124501,0.00003975323,0.0001301384],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001453527,0.0002657122,0.684001,0.0001474457,0.0001781114,0.2123629,0.0009774636,0.0005432586,0.08610098,0.0004305069,0.0007556388,0.01278339],"study_design_scores_gemma":[0.0001581356,0.001014681,0.4746367,0.00004055036,0.0001812187,0.5124028,0.0003685834,0.001016162,0.008919382,0.0003055601,0.0009166357,0.00003963153],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988981,0.0001679949,0.0002773952,0.00005953803,0.000005492398,0.00001368303,0.00005834021,0.00002161047,0.000497867],"genre_scores_gemma":[0.9991825,0.00007756057,0.0004372464,0.00005274824,0.00002060262,0.000008694347,0.00009294911,0.000008892655,0.000118757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001490149,"threshold_uncertainty_score":0.004985034,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007611063020010024,"score_gpt":0.2068885164170295,"score_spread":0.1992774533970194,"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."}}