{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002822378,0.0003916927,0.0003314474,0.0001843836,0.0001343823,0.0000507474,0.0004605058,0.0007041469,0.0002264783],"category_scores_gemma":[0.0003500745,0.0003460306,0.00007698417,0.0005754456,0.0002782897,0.000008452038,0.00009610868,0.0004042773,0.00005248418],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001563231,"about_ca_system_score_gemma":0.00413038,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.008709195,"about_ca_topic_score_gemma":0.09834128,"domain_scores_codex":[0.9967795,0.0002247087,0.0004968684,0.0007435091,0.0006915785,0.001063821],"domain_scores_gemma":[0.9984126,0.00002771156,0.0001072603,0.0004555866,0.0001835679,0.0008132634],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006699344,0.0003183741,0.2315145,0.00004346964,0.00003264331,0.00003684265,0.00004618043,0.0005426582,0.7640296,0.00004133657,0.002005499,0.0007189798],"study_design_scores_gemma":[0.002881461,0.00143113,0.0180479,0.00007964762,0.00002779944,0.00006858177,0.00007815653,0.0006706479,0.9388116,0.00001294698,0.03705116,0.0008389484],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997372,0.0006470736,0.0002655661,0.0001275906,0.0004410245,0.0004727281,0.00003911321,0.00003758381,0.0005972958],"genre_scores_gemma":[0.9960038,0.00008711839,0.001933517,0.0002613011,0.001021754,0.00007055255,0.0003135237,0.00007658469,0.000231831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2134666,"threshold_uncertainty_score":0.9998991,"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."}}