{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006274504,0.0001197213,0.0002530756,0.000048662,0.00002209453,0.00001133889,0.0001732822,0.0003086622,0.00006874934],"category_scores_gemma":[0.0005372647,0.00009024964,0.00006881011,0.00008573171,0.0001922966,0.000004718538,0.00006886641,0.0002011121,0.000001936215],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001261914,"about_ca_system_score_gemma":0.0003724503,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002148287,"about_ca_topic_score_gemma":0.00001903454,"domain_scores_codex":[0.9986469,0.0001300053,0.0003982461,0.0001448464,0.0005276711,0.0001523016],"domain_scores_gemma":[0.9987972,0.00003100137,0.0003322389,0.0001209181,0.0003915437,0.0003270937],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002080538,0.000601233,0.05365831,0.00005884819,0.0009908864,0.0003070535,0.002121008,0.0000809769,0.8909906,0.00004890612,0.02924766,0.01981405],"study_design_scores_gemma":[0.04058962,0.02919973,0.02642321,0.0005684277,0.001598007,0.01780105,0.004361196,0.0007349589,0.6550091,0.001084999,0.2208047,0.001825013],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992894,0.003671714,0.002269224,0.000389693,0.0005158397,0.0000624205,0.00001593401,0.000002233225,0.0001789722],"genre_scores_gemma":[0.99614,0.001458564,0.001133878,0.000586661,0.0004052898,9.824374e-7,0.00001553615,0.00001404964,0.0002450477],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2359814,"threshold_uncertainty_score":0.3680274,"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."}}