{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005732588,0.0001766489,0.0003332915,0.00004115108,0.0000934854,0.00001682858,0.0000714319,0.00005184763,0.00009030203],"category_scores_gemma":[0.0002506193,0.0001587678,0.000306508,0.0002528376,0.00009649168,0.00005877359,0.0000833573,0.0001901946,0.0001239204],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007504651,"about_ca_system_score_gemma":0.00003177101,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001347589,"about_ca_topic_score_gemma":0.000007396004,"domain_scores_codex":[0.9989605,0.00003987077,0.0001774704,0.0003240472,0.0002643635,0.0002337665],"domain_scores_gemma":[0.9994861,0.00002903806,0.00003287792,0.0002145565,0.00005084112,0.0001865855],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004791533,0.002114348,0.430114,0.003086028,0.004752559,0.004471227,0.02346336,0.0005093031,0.1584021,0.0061758,0.1281947,0.2339251],"study_design_scores_gemma":[0.006615288,0.001887996,0.2239114,0.00005096835,0.00110671,0.0001890996,0.00260946,0.0006426719,0.002221029,0.0001909836,0.7598158,0.0007586756],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9618238,0.0036658,0.0006319047,0.01966935,0.0003178055,0.0004841176,0.00001477854,0.0003123016,0.01308011],"genre_scores_gemma":[0.9932052,0.0006294113,0.0001497927,0.005553518,0.0002613008,0.00002160235,0.0000185667,0.00003439625,0.0001261833],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.631621,"threshold_uncertainty_score":0.6474361,"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."}}