{"id":"W2589057183","doi":"10.1210/jc.2016-3903","title":"A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis","year":2017,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"National Institutes of Health; University of Pennsylvania","keywords":"Missense mutation; Hypertriglyceridemia; Apolipoprotein B; Pancreatitis; Acute pancreatitis; Endocrinology; Internal medicine; Medicine; Context (archaeology); Lipoprotein lipase; Very low-density lipoprotein; Lipoprotein; Biology; Genetics; Mutation; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001836254,0.0002699556,0.001557292,0.000148575,0.0006598604,0.00004941499,0.0002977536,0.0001728573,0.00004671966],"category_scores_gemma":[0.004340439,0.0001447079,0.0002748953,0.000095784,0.001057877,0.0003308409,0.0001475376,0.0009770362,0.000005161902],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001125159,"about_ca_system_score_gemma":0.0004127323,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004512276,"about_ca_topic_score_gemma":0.00004684036,"domain_scores_codex":[0.9971211,0.0003111706,0.001392577,0.0002553942,0.0004454789,0.0004743096],"domain_scores_gemma":[0.9961162,0.0006300366,0.001830019,0.0007009843,0.0004202371,0.0003025248],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.07795309,0.005323631,0.1304945,0.0006893522,0.006123441,0.007140362,0.008990966,0.0004425484,0.03954745,0.03688147,0.006066331,0.6803468],"study_design_scores_gemma":[0.04387965,0.00173526,0.8317519,0.0003030571,0.005736715,0.07540591,0.001012383,0.0001583636,0.001859995,0.002257919,0.03540108,0.0004977382],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9826854,0.005308131,0.0009056933,0.008383658,0.0008302458,0.000395057,0.000006713759,0.00001995323,0.001465123],"genre_scores_gemma":[0.9873535,0.004474716,0.004957495,0.00127052,0.00144743,0.000005191005,0.000001602693,0.00003078223,0.0004587609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7012574,"threshold_uncertainty_score":0.5901017,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04872417114467226,"score_gpt":0.3607224972496308,"score_spread":0.3119983261049585,"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."}}