{"id":"W1989253826","doi":"10.1016/j.ejmg.2014.06.006","title":"Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome","year":2014,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; Western University; University of Calgary; University of British Columbia; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research","keywords":"Peroxisome proliferator-activated receptor gamma; Lipodystrophy; Hypertriglyceridemia; Mutation; Genetics; Internal medicine; Phenotype; Endocrinology; Medicine; Biology; Gene; Peroxisome; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008615594,0.0001574508,0.000185377,0.00005441638,0.0001426799,0.00004293252,0.0005123852,0.00008009574,0.0001660224],"category_scores_gemma":[0.0003994432,0.0001074061,0.0001566743,0.000106776,0.0001036268,0.000002823849,0.0001932892,0.0002259436,0.0001009462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001343122,"about_ca_system_score_gemma":0.00006716225,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001370862,"about_ca_topic_score_gemma":0.0000130404,"domain_scores_codex":[0.9980896,0.00048698,0.00044579,0.0001878158,0.0005745361,0.0002152797],"domain_scores_gemma":[0.9989242,0.00002670447,0.0001732022,0.0003317225,0.0001582726,0.0003859226],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001155855,0.0003618344,0.001867324,0.00006974138,0.002156677,0.001881831,0.001373982,0.0132574,0.420894,0.0004370482,0.4365103,0.120034],"study_design_scores_gemma":[0.001268909,0.001412807,0.004635924,0.00002247815,0.0001392811,0.001745062,0.00003590249,0.0003317656,0.003207295,0.00003167286,0.9869736,0.0001952462],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9827389,0.000948182,0.0100807,0.004451216,0.0009077046,0.0001020388,0.000009065658,0.000006940921,0.0007552496],"genre_scores_gemma":[0.9909542,0.0005368905,0.002367553,0.003248181,0.002089804,0.000001130845,0.00002303989,0.00004978783,0.0007293883],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5504634,"threshold_uncertainty_score":0.4379893,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01315357979421354,"score_gpt":0.2408034949431525,"score_spread":0.227649915148939,"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."}}