{"id":"W3048723714","doi":"10.1093/brain/awaa206","title":"Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles","year":2020,"lang":"en","type":"article","venue":"Brain","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Vetenskapsrådet; Deutsche Forschungsgemeinschaft; California Department of Fish and Game","keywords":"Myopathy; Myofibril; Nebulin; Sarcolemma; Dystrophin; Desmin; Muscle biopsy; Biology; Myosin; Myocyte; Duchenne muscular dystrophy; Cell biology; Vacuole; Endocrinology; Pathology; Internal medicine; Sarcomere; Medicine; Genetics; Immunohistochemistry; Cytoplasm; Biopsy; Titin; Immunology","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":[0.0001172844,0.0005953006,0.0002047022,0.0004735326,0.0002467619,0.0001561852,0.0001431218,0.0003008296,0.001099257],"category_scores_gemma":[0.0002752681,0.0002160959,0.0001703772,0.0001656804,0.0003206661,0.0001291793,0.0003492561,0.0002025714,0.0001907995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001440361,"about_ca_system_score_gemma":0.00009508203,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005425204,"about_ca_topic_score_gemma":0.0007695166,"domain_scores_codex":[0.9998848,0.00001693832,0.00001433842,0.00003132594,0.00002577337,0.00002677345],"domain_scores_gemma":[0.9998462,0.00003442633,0.00004961425,0.00001090921,0.000009868059,0.0000488981],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0007234824,0.0001784344,0.124972,0.0001289998,0.0001055834,0.05894428,0.0004060153,0.0002012376,0.8055121,0.000224394,0.0002299339,0.008373507],"study_design_scores_gemma":[0.000117454,0.001576827,0.6190704,0.00002891157,0.0001710465,0.2696577,0.0003691904,0.001263351,0.1052713,0.0001602063,0.002286054,0.00002760891],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994497,0.00009822837,0.000211196,0.000008316042,0.000001573639,0.000003269043,0.00001877446,0.000009292268,0.0001996438],"genre_scores_gemma":[0.9995135,0.00006327468,0.000156447,0.000007970377,0.000003137494,0.000001933314,0.00004243821,0.00000393288,0.0002074592],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001099257,"threshold_uncertainty_score":0.003677368,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01291651243296023,"score_gpt":0.2243040934035815,"score_spread":0.2113875809706213,"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."}}