{"id":"W2118639499","doi":"10.1186/1471-2350-7-3","title":"Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)","year":2006,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; Robarts Clinical Trials; University of Calgary; University of Alberta","funders":"Canadian Institutes of Health Research; Fondation pour la Recherche Médicale; Genome Canada; Heart and Stroke Foundation of Canada","keywords":"Haploinsufficiency; Endocrinology; Internal medicine; Peroxisome proliferator-activated receptor gamma; Biology; Genetics; Receptor; Peroxisome proliferator-activated receptor; Phenotype; Medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001491242,0.001547394,0.0003942132,0.001368315,0.003024939,0.0004318523,0.0006812214,0.001074637,0.004111735],"category_scores_gemma":[0.0006690657,0.0003885484,0.0005989713,0.001856381,0.001231506,0.0001836215,0.0007461008,0.0007574781,0.0004054381],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004550516,"about_ca_system_score_gemma":0.00524791,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5828547,"about_ca_topic_score_gemma":0.6669549,"domain_scores_codex":[0.999761,0.00001108251,0.00001374728,0.0000467254,0.00009448003,0.00007294059],"domain_scores_gemma":[0.999757,0.00003858297,0.00004232583,0.000009781535,0.00005470932,0.00009767511],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0008486629,0.0001245547,0.06609414,0.0003075392,0.0001587752,0.8439169,0.003264635,0.0006751511,0.05354001,0.002253766,0.005316467,0.02349937],"study_design_scores_gemma":[0.0001027256,0.0001948783,0.1723885,0.00009335261,0.0002069209,0.8059474,0.001389353,0.0009536152,0.005725698,0.0005511958,0.0123171,0.0001293731],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9858191,0.001034812,0.001235688,0.00111183,0.00007784396,0.00009249111,0.001198684,0.0001037888,0.009325691],"genre_scores_gemma":[0.9920643,0.0007605139,0.002080403,0.0002841762,0.0000244599,0.00001688964,0.0004039613,0.00004045908,0.004324818],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4171453,"threshold_uncertainty_score":0.839204,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007669925116398854,"score_gpt":0.2276779043600994,"score_spread":0.2200079792437005,"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."}}