{"id":"W4390977726","doi":"10.1002/ajmg.a.63533","title":"Metabolic and other morbid complications in congenital generalized lipodystrophy type 4","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Centre Hospitalier Universitaire de Sherbrooke","funders":"LG Chem; Southwestern Medical Foundation; National Institutes of Health; Amryt Pharma; Ionis Pharmaceuticals; National Institute of Diabetes and Digestive and Kidney Diseases; Alnylam Pharmaceuticals; Regeneron Pharmaceuticals; Sanofi; AstraZeneca","keywords":"Medicine; Internal medicine; Gastroenterology; Hypertriglyceridemia; Sudden death; Sudden cardiac death; Cardiology; Myopathy; Pediatrics; Triglyceride; Cholesterol","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001875791,0.0003417538,0.0003327999,0.0008200305,0.0004326542,0.0003617957,0.0002018721,0.0003853301,0.001017931],"category_scores_gemma":[0.001043687,0.0002100428,0.000289776,0.000604013,0.0003963118,0.0002491408,0.0004631079,0.0003493105,0.0001305721],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001785963,"about_ca_system_score_gemma":0.0001690379,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009985879,"about_ca_topic_score_gemma":0.001056726,"domain_scores_codex":[0.9998003,0.00005195281,0.00002836962,0.00003773017,0.00004044329,0.00004126107],"domain_scores_gemma":[0.9995281,0.00007831308,0.0002105718,0.00002535715,0.00002656484,0.0001311644],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.00010277,0.00001296338,0.9928938,0.00001237783,0.00002835892,0.004703809,0.00005381825,0.00003687941,0.0004736821,0.00001573266,0.00004561366,0.001620228],"study_design_scores_gemma":[0.000009653229,0.0001503791,0.9702613,0.000009049863,0.00002320978,0.02905353,0.0001919586,0.0001013677,0.00007825325,0.00002986511,0.00008614798,0.000005150048],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992068,0.0003997036,0.00004442863,0.00002586694,0.000003656609,0.000003133503,0.00005424077,0.000005412643,0.0002566592],"genre_scores_gemma":[0.999626,0.0001667296,0.00004424532,0.00001681688,0.000009593164,0.000003171513,0.00008554135,0.000001229552,0.00004653646],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001017931,"threshold_uncertainty_score":0.003405333,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01144472031297262,"score_gpt":0.2847461187368074,"score_spread":0.2733013984238348,"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."}}