{"id":"W2143679314","doi":"10.1136/jmg.38.11.e40","title":"Molecular and clinical study of two myotonic dystrophy homozygotes","year":2001,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Myotonic dystrophy; Genetics; Medicine; Myotonia; Bioinformatics; Computational biology; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000502562,0.0008367778,0.0005363791,0.001264412,0.0008357135,0.0007840273,0.0009905192,0.002494942,0.007526907],"category_scores_gemma":[0.002253631,0.000316312,0.0005505767,0.0003431827,0.0005712506,0.0006169513,0.0005880413,0.001363824,0.001526939],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004339805,"about_ca_system_score_gemma":0.0001872551,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008592854,"about_ca_topic_score_gemma":0.0006982444,"domain_scores_codex":[0.9994678,0.00005898766,0.0000768665,0.0001742512,0.00009875936,0.0001234187],"domain_scores_gemma":[0.9982151,0.0004291848,0.0001647804,0.00008054379,0.0003561323,0.000754269],"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":[0.0004957617,0.0003506699,0.02613547,0.00009145746,0.00006883954,0.9360349,0.000345959,0.00005611371,0.01654655,0.000372822,0.008532594,0.01096891],"study_design_scores_gemma":[0.0000842131,0.0004066216,0.03837213,0.00002711727,0.00004394907,0.947408,0.0001929066,0.0004352994,0.003236907,0.0001559041,0.009606846,0.00003006372],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9651517,0.003028204,0.002216584,0.008986538,0.005709598,0.000217704,0.0006133498,0.0001445568,0.01393176],"genre_scores_gemma":[0.9854916,0.0007362447,0.001414296,0.002738658,0.003270182,0.00003517982,0.0003776991,0.00006356794,0.005872537],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007526907,"threshold_uncertainty_score":0.02517998,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05375931774665557,"score_gpt":0.370736397209002,"score_spread":0.3169770794623464,"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."}}