{"id":"W3000840952","doi":"10.1002/ana.25685","title":"Novel Recessive <i>TNNT1</i> Congenital Core‐Rod Myopathy in French Canadians","year":2020,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier de l'Université Laval; Ottawa Hospital; Hôpital de l'Enfant-Jésus; Cégep de Lévis; Université Laval; Université de Montréal; Université de Sherbrooke; Centre Hospitalier Universitaire Sainte-Justine; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Child Health and Human Development; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Cancer Institute; Muscular Dystrophy Association","keywords":"Nemaline myopathy; Congenital myopathy; Muscle biopsy; Myopathy; Muscle contracture; Compound heterozygosity; Medicine; Pathology; Anatomy; Biology; Biopsy; Genetics; Phenotype; Gene","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":[0.0002756142,0.002138532,0.0007057609,0.001738609,0.004715558,0.000658887,0.0008669709,0.001438049,0.005960057],"category_scores_gemma":[0.0008611262,0.0003822267,0.0009014704,0.001243675,0.001343549,0.0003066068,0.000744125,0.0009289206,0.0004827211],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.007039043,"about_ca_system_score_gemma":0.006493857,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8297084,"about_ca_topic_score_gemma":0.8291405,"domain_scores_codex":[0.9994764,0.00003175867,0.00003088312,0.0001593486,0.0001239635,0.0001777585],"domain_scores_gemma":[0.9995897,0.00005613235,0.00006996438,0.00001258874,0.0001385361,0.0001329613],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001047749,0.0003187834,0.2435384,0.0004055306,0.0003361401,0.6401032,0.01030893,0.001157971,0.04316577,0.003740524,0.01382598,0.04205109],"study_design_scores_gemma":[0.0001463959,0.0005348132,0.4185077,0.0002240725,0.0002506,0.5406128,0.004610822,0.001497948,0.00341906,0.0004943506,0.02943708,0.0002644885],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865837,0.0007963371,0.001017825,0.001064276,0.0001276848,0.00008660276,0.001006004,0.000110672,0.009206899],"genre_scores_gemma":[0.991549,0.0005701017,0.001279714,0.0005236247,0.00005650246,0.0000244317,0.00043694,0.00005035027,0.005509254],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1702916,"threshold_uncertainty_score":0.3425889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08796836342747671,"score_gpt":0.3107963958743094,"score_spread":0.2228280324468327,"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."}}