{"id":"W1974667709","doi":"10.1016/j.pediatrneurol.2014.05.006","title":"Vanishing White Matter Disease in French-Canadian Patients From Quebec","year":2014,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; McGill University; Children's Hospital of Eastern Ontario; Montreal Neurological Institute and Hospital; Centre intégré universitaire de santé et de services sociaux de la Mauricie-et-du-Centre-du-Québec; University of Ottawa","funders":"","keywords":"Leukodystrophy; White matter; Missense mutation; Medicine; Disease; Compound heterozygosity; Pediatrics; Mutation; Genetics; Pathology; Biology; Magnetic resonance imaging; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002678868,0.001381674,0.0005723049,0.00188281,0.006049409,0.001362677,0.001063687,0.001152848,0.005875067],"category_scores_gemma":[0.001283486,0.0003648486,0.0004516603,0.003119565,0.001175681,0.0004943252,0.0008861733,0.0008080632,0.0005119877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01069048,"about_ca_system_score_gemma":0.0115225,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9451383,"about_ca_topic_score_gemma":0.9561343,"domain_scores_codex":[0.999569,0.00002645658,0.0000335984,0.00008100361,0.00008504615,0.0002048197],"domain_scores_gemma":[0.9992641,0.00008711065,0.000134779,0.00001894698,0.0002912941,0.0002038928],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003339973,0.0001354443,0.8307558,0.0001418051,0.0001320558,0.134641,0.006930706,0.0003961968,0.003549478,0.001762199,0.005138396,0.01608299],"study_design_scores_gemma":[0.00005376688,0.0001200304,0.8929741,0.0002531866,0.0002179358,0.08911724,0.008378273,0.0006102223,0.0005614996,0.0004665788,0.007176873,0.00007021611],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9812078,0.00116918,0.0002307084,0.00107929,0.00005776998,0.00005049384,0.001479217,0.00002334189,0.01470207],"genre_scores_gemma":[0.9960278,0.0007258276,0.0002292115,0.0003201393,0.00003695879,0.00001070127,0.0004307569,0.00001856318,0.002200106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05486172,"threshold_uncertainty_score":0.1103696,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00285443966379284,"score_gpt":0.1812263329838026,"score_spread":0.1783718933200098,"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."}}