{"id":"W3206903207","doi":"10.6065/apem.2142056.028","title":"Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes","year":2021,"lang":"en","type":"article","venue":"Annals of Pediatric Endocrinology & Metabolism","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Robarts Research Institute","keywords":"Internal medicine; Medicine; Endocrinology; Fenofibrate; Hypertriglyceridemia; Peroxisome proliferator-activated receptor gamma; Insulin resistance; Type 2 diabetes; Diabetes mellitus; Triglyceride; Peroxisome proliferator-activated receptor; Cholesterol; Receptor","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001391028,0.0007472197,0.0005020364,0.0007266991,0.0005900454,0.0004095138,0.0002322161,0.0007894006,0.001771207],"category_scores_gemma":[0.0008624143,0.0003535663,0.0003393042,0.000391882,0.0003763194,0.0002267098,0.0003439781,0.0006314324,0.0003229771],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002599263,"about_ca_system_score_gemma":0.0002435519,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001692703,"about_ca_topic_score_gemma":0.001592744,"domain_scores_codex":[0.9997951,0.00002891581,0.00002453507,0.00006809522,0.00003988649,0.00004333538],"domain_scores_gemma":[0.9996648,0.0001019594,0.00009208691,0.00001314209,0.00003116376,0.00009676439],"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":[0.0003864353,0.0002536904,0.404869,0.00003464963,0.00004216351,0.569583,0.0008754944,0.0001856541,0.01840751,0.0002396886,0.0004279452,0.004694782],"study_design_scores_gemma":[0.0000352844,0.0004624071,0.2386101,0.00003616534,0.0000591859,0.7541661,0.0005787734,0.0007270122,0.00356313,0.0001171347,0.001625938,0.0000187791],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986639,0.0001330444,0.0003735791,0.0001305164,0.00001512094,0.00001245722,0.0001025146,0.00001282969,0.0005560773],"genre_scores_gemma":[0.9990559,0.0001287222,0.0003585094,0.00006874796,0.00001881199,0.000007374275,0.0000729852,0.00001214169,0.0002767292],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001771207,"threshold_uncertainty_score":0.005925298,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02153694312697318,"score_gpt":0.2569534686556816,"score_spread":0.2354165255287084,"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."}}