{"id":"W1490256361","doi":"10.1002/mus.23666","title":"Dysferlin aggregation in limb‐girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis","year":2012,"lang":"en","type":"article","venue":"Muscle & Nerve","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Dysferlin; Limb-girdle muscular dystrophy; Muscular dystrophy; Myopathy; Phenotype; Mutation; Biology; Genetics; Pathology; Medicine; 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":[0.0002775389,0.0004826597,0.0002785258,0.0006183588,0.000270275,0.0002963414,0.000214276,0.0007262034,0.001260976],"category_scores_gemma":[0.0006642726,0.0001678151,0.000113983,0.0002715041,0.0003476489,0.0001592072,0.0002091713,0.0002693011,0.0003840687],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003323355,"about_ca_system_score_gemma":0.0002280596,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001498129,"about_ca_topic_score_gemma":0.001729821,"domain_scores_codex":[0.9998667,0.00002438278,0.00001873698,0.00002978636,0.00003277124,0.00002759679],"domain_scores_gemma":[0.9998729,0.00004265969,0.00002834016,0.000006505294,0.00002040694,0.00002913533],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006758582,0.0001800134,0.6431063,0.0002217402,0.00004579495,0.1100728,0.0005325915,0.0004358911,0.2158509,0.0003042868,0.001919452,0.02665425],"study_design_scores_gemma":[0.00008570564,0.000455077,0.7179548,0.0001324693,0.0001445934,0.2337561,0.0003584334,0.003053378,0.04063534,0.0004780419,0.002926817,0.0000193065],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973843,0.0009384638,0.0004800345,0.0002145838,0.00001081772,0.0000111582,0.00005015152,0.00003239876,0.0008781438],"genre_scores_gemma":[0.9987661,0.0002716095,0.0006413601,0.00008199624,0.00001641903,0.000004108928,0.00006670094,0.00000374357,0.0001479867],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001498129,"threshold_uncertainty_score":0.00421834,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0161601153412756,"score_gpt":0.2670346479387868,"score_spread":0.2508745325975112,"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."}}