{"id":"W3089445484","doi":"10.1016/j.nmd.2020.08.034","title":"CONGENITAL MYOPATHIES 1 – NEMALINE","year":2020,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre hospitalier de l'Université Laval","funders":"","keywords":"Nebulin; Nemaline myopathy; Exon; Congenital myopathy; Genetics; Biology; Muscle biopsy; Exome sequencing; RNA splicing; Splice site mutation; Alternative splicing; Mutation; Sarcomere; Myopathy; Gene; Titin; Pathology; Cell biology; Medicine; Biopsy; Myocyte","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":[0.0003430345,0.001091879,0.0003882293,0.0014952,0.0008043285,0.0002900989,0.0009307421,0.001275262,0.00921088],"category_scores_gemma":[0.001109613,0.0002725311,0.0003439035,0.0006536134,0.00144603,0.0009936719,0.001111008,0.0007171821,0.001257008],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003257972,"about_ca_system_score_gemma":0.0003428583,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00158053,"about_ca_topic_score_gemma":0.001749018,"domain_scores_codex":[0.9996698,0.00003671328,0.00004229551,0.00008852537,0.00008188999,0.0000807687],"domain_scores_gemma":[0.9996219,0.0001278996,0.00009844093,0.00002634224,0.00004904707,0.00007638148],"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":[0.0006857818,0.0001293649,0.05678768,0.000356348,0.0001088698,0.831097,0.000814745,0.0004443152,0.0846125,0.003314267,0.002040962,0.01960812],"study_design_scores_gemma":[0.00006342994,0.0005753623,0.1727069,0.0001435945,0.000155021,0.7722109,0.0005437522,0.0005881786,0.0320321,0.002322646,0.01861611,0.00004205602],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9090484,0.004708696,0.001553508,0.001450415,0.0003718047,0.0001068217,0.0006647629,0.0001107143,0.08198489],"genre_scores_gemma":[0.9890867,0.001047477,0.0006324804,0.0002164372,0.0002190965,0.00001807721,0.0002288961,0.00002730631,0.008523561],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00921088,"threshold_uncertainty_score":0.03081346,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01682873137396612,"score_gpt":0.2353604620619168,"score_spread":0.2185317306879506,"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."}}