{"id":"W2115252422","doi":"10.1111/j.1399-0004.2009.01365_3.x","title":"Lipodystrophy and muscular dystrophy caused by PTRF mutations","year":2010,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Caveolin-1 and cellular processes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute","funders":"","keywords":"Muscular dystrophy; Lipodystrophy; Mutation; Genetics; Medicine; Duchenne muscular dystrophy; Internal medicine; Biology; Endocrinology; 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":[0.0007139185,0.001051375,0.001172698,0.0004674564,0.000902721,0.000739513,0.0007332832,0.01361198,0.003297257],"category_scores_gemma":[0.003533527,0.0004743661,0.0007176833,0.0003543712,0.001416609,0.000912655,0.000541263,0.005884314,0.001922707],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001271717,"about_ca_system_score_gemma":0.0005855968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00164253,"about_ca_topic_score_gemma":0.002540161,"domain_scores_codex":[0.9995111,0.0001318348,0.00006563647,0.00008001159,0.0001124793,0.00009884316],"domain_scores_gemma":[0.9992066,0.0004214954,0.00006280634,0.00004956394,0.00008825167,0.0001712762],"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":[0.001115698,0.0002376714,0.009902526,0.0003005855,0.0001431221,0.7543777,0.000316071,0.0004338122,0.006023656,0.005499048,0.1939287,0.02772146],"study_design_scores_gemma":[0.001339378,0.0007262199,0.03371143,0.0003465981,0.000244757,0.7814496,0.0003537086,0.004635205,0.004054147,0.01188835,0.1611089,0.0001417196],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1591897,0.01418496,0.003625126,0.7189727,0.03543807,0.0003204167,0.0006148118,0.0005117581,0.06714247],"genre_scores_gemma":[0.5803781,0.01039899,0.002639654,0.2683508,0.0919752,0.0002305778,0.0003633189,0.0001096754,0.0455537],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01361198,"threshold_uncertainty_score":0.01103044,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01555058724384646,"score_gpt":0.2919565190729271,"score_spread":0.2764059318290806,"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."}}