{"id":"W2182501323","doi":"","title":"Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.","year":2015,"lang":"en","type":"article","venue":"PubMed","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital; University of Toronto","funders":"","keywords":"Limb-girdle muscular dystrophy; Medicine; Muscular dystrophy; Ptosis; Plectin; Ophthalmoparesis; Variable Expression; Proximal muscle weakness; Exome sequencing; Phenotype; Dermatology; Pathology; Genetics; Muscle biopsy; Surgery; Internal medicine; Biology; Gene; Biopsy","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":[0.0002274349,0.001947652,0.0009549032,0.001654118,0.002008152,0.001015334,0.0008991178,0.003939527,0.002787669],"category_scores_gemma":[0.001420785,0.0008347215,0.0009126707,0.0008202795,0.001465539,0.001197475,0.001121033,0.002158577,0.0008001118],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008623095,"about_ca_system_score_gemma":0.0007748138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003283604,"about_ca_topic_score_gemma":0.002645541,"domain_scores_codex":[0.999645,0.00002650288,0.00003389205,0.0001762056,0.00004156027,0.0000768105],"domain_scores_gemma":[0.999236,0.0001419307,0.0001200045,0.00006344046,0.00005333889,0.0003853545],"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":[0.00004331413,0.00004517951,0.007663488,0.00002087644,0.00001373872,0.988703,0.0002182307,0.00003862448,0.001557839,0.0001595368,0.0004074292,0.001128749],"study_design_scores_gemma":[0.00001206845,0.00006595195,0.006379937,0.000005587938,0.00001449524,0.9924119,0.00006270605,0.00006887149,0.0003711779,0.0001022055,0.0004964781,0.000008565944],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9756638,0.003642634,0.002865508,0.005010309,0.0005825776,0.0002217103,0.0007608102,0.0002685075,0.01098404],"genre_scores_gemma":[0.9934682,0.0007527812,0.0009462477,0.001366921,0.0003780406,0.00003059383,0.0001963893,0.0000299815,0.00283081],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003939527,"threshold_uncertainty_score":0.009325743,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01501098134238892,"score_gpt":0.2240424370930693,"score_spread":0.2090314557506804,"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."}}