{"id":"W4206047998","doi":"10.1017/cjn.2021.334","title":"P.053 A clinical mystery finally revealed","year":2021,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Myopathy; Muscular dystrophy; Medicine; Exon; Atrophy; Phenotype; Mutation; Trunk; Internal medicine; Pathology; Cardiology; Genetics; Biology; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001918604,0.0003810292,0.0002665958,0.0003717255,0.0008690672,0.0008390765,0.0003752171,0.00197744,0.02392526],"category_scores_gemma":[0.0007647747,0.00009874869,0.0002320572,0.0002012654,0.0007546699,0.0006175938,0.000500485,0.00133789,0.00354475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005062785,"about_ca_system_score_gemma":0.0004937887,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001361089,"about_ca_topic_score_gemma":0.001407081,"domain_scores_codex":[0.9998189,0.00002623465,0.00001306229,0.00005296968,0.00003983947,0.00004900596],"domain_scores_gemma":[0.9997937,0.00003724671,0.00002865046,0.00001642893,0.00004609177,0.00007796186],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0008843707,0.0001459178,0.05612089,0.0002806284,0.00007157643,0.7117436,0.001247909,0.000219878,0.01899113,0.02655625,0.08465482,0.09908301],"study_design_scores_gemma":[0.00007280923,0.0002527226,0.02984482,0.000282943,0.0000545654,0.7742444,0.001214591,0.0007738954,0.004278448,0.01152041,0.1774153,0.00004512458],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5966541,0.01182585,0.005981758,0.089843,0.01026444,0.0001703929,0.002219336,0.0006334206,0.2824076],"genre_scores_gemma":[0.90957,0.002028582,0.002183358,0.008704787,0.001933071,0.00003580727,0.0005589029,0.00008193967,0.07490346],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02392526,"threshold_uncertainty_score":0.08003789,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03388114722362957,"score_gpt":0.2861073282197572,"score_spread":0.2522261809961276,"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."}}