{"id":"W3016847944","doi":"10.1016/j.nmd.2020.03.010","title":"Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity","year":2020,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre hospitalier universitaire de Québec; Université Laval","funders":"National Human Genome Research Institute; European Regional Development Fund","keywords":"Phenotype; Mutation; Collagen VI; Genetics; Myopathy; Gene; Limb-girdle muscular dystrophy; Compound heterozygosity; Gene mutation; Medicine; Biology; Bioinformatics","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":[0.0009559126,0.0005373745,0.0004876421,0.001887387,0.0003133872,0.0003824217,0.0006889665,0.0009352918,0.001957925],"category_scores_gemma":[0.004705728,0.000129947,0.0004019619,0.00139176,0.0008123748,0.0003125419,0.0004046765,0.0003075093,0.00029224],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001254717,"about_ca_system_score_gemma":0.0001833365,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005713465,"about_ca_topic_score_gemma":0.0005847522,"domain_scores_codex":[0.9991942,0.0001429661,0.0002417935,0.0001852999,0.0001647585,0.00007105031],"domain_scores_gemma":[0.9954912,0.002750844,0.0007528437,0.0003793357,0.0003838944,0.0002418237],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.003394386,0.0001223829,0.4972582,0.001343636,0.001586799,0.3169281,0.002086201,0.0003591393,0.1492317,0.001351419,0.001084486,0.02525357],"study_design_scores_gemma":[0.0001736507,0.0003875743,0.4657559,0.0002595188,0.001281566,0.5052687,0.001324248,0.0005240961,0.01806344,0.001599296,0.00530347,0.00005869317],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901018,0.00563095,0.001112726,0.0001847028,0.0001244834,0.00001291628,0.0004399069,0.00002057401,0.002371746],"genre_scores_gemma":[0.9979443,0.001057569,0.00042477,0.00008160587,0.0001068387,0.000004043289,0.0002176455,0.000008958059,0.0001542945],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001957925,"threshold_uncertainty_score":0.006549895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00528814497276504,"score_gpt":0.2095343491548623,"score_spread":0.2042462041820972,"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."}}