{"id":"W2131972586","doi":"10.1194/jlr.p025437","title":"Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency","year":2012,"lang":"en","type":"article","venue":"Journal of Lipid Research","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Robarts Clinical Trials","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; Université Laval","keywords":"Biology; Peroxisome proliferator-activated receptor; Lipodystrophy; Phenotype; Hypertriglyceridemia; Myopathy; Internal medicine; Heterozygote advantage; Endocrinology; Genetics; Gene; Medicine; Triglyceride","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001716627,0.000770657,0.0004438757,0.0006755879,0.0002996072,0.0002387893,0.0002241486,0.0005453138,0.001465529],"category_scores_gemma":[0.0005599118,0.0002285241,0.0003622672,0.0003452486,0.0006160996,0.000163777,0.000391448,0.0004527522,0.0002921601],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001614528,"about_ca_system_score_gemma":0.0002304916,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005876718,"about_ca_topic_score_gemma":0.0004238815,"domain_scores_codex":[0.9998819,0.00001377313,0.00001420062,0.0000410822,0.00002686744,0.00002228273],"domain_scores_gemma":[0.9997625,0.00005642594,0.00004369388,0.00001564919,0.00002357027,0.00009813793],"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":[0.001641213,0.000293568,0.1415455,0.0002106513,0.0001076987,0.4386038,0.0005295722,0.0006334554,0.3986107,0.0007014143,0.0008414142,0.01628108],"study_design_scores_gemma":[0.0000765844,0.0009063993,0.2593741,0.00002953825,0.00009742694,0.7172313,0.0002472434,0.0008801522,0.01813884,0.0004238007,0.002564515,0.00003008174],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979432,0.0002591807,0.0005848765,0.00007873913,0.000006243666,0.00002287191,0.0002120552,0.00001801447,0.0008748375],"genre_scores_gemma":[0.9987236,0.0001735016,0.0004651753,0.000056182,0.00001226343,0.000009583936,0.0002703761,0.000007171769,0.0002821138],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001465529,"threshold_uncertainty_score":0.004902661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03637709318323708,"score_gpt":0.3567671972934986,"score_spread":0.3203901041102615,"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."}}