{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001887922,0.001455499,0.0005235965,0.0009766272,0.0008330628,0.0005211324,0.000588073,0.002656252,0.001612674],"category_scores_gemma":[0.0009914562,0.0003905261,0.0006410354,0.0008421506,0.0007530026,0.0004086884,0.0006372778,0.001159591,0.0004640266],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006008529,"about_ca_system_score_gemma":0.000460219,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001132682,"about_ca_topic_score_gemma":0.001147558,"domain_scores_codex":[0.999757,0.00002604077,0.00004035109,0.00007665752,0.00004107571,0.00005880569],"domain_scores_gemma":[0.9995319,0.0001490926,0.00009038219,0.00002049886,0.00003363007,0.0001744864],"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":[0.00008923156,0.00005173673,0.008064375,0.00003084648,0.00001445314,0.9849756,0.000125406,0.0000986758,0.005110256,0.0001284979,0.0002509415,0.001059893],"study_design_scores_gemma":[0.00004575591,0.0001501586,0.01192468,0.00001179516,0.00002865955,0.9838958,0.00007651334,0.0004443522,0.002686491,0.0001536164,0.0005669277,0.00001520727],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948499,0.0006099624,0.00113726,0.0008907172,0.0001472413,0.00008148351,0.0001364651,0.00006750788,0.002079392],"genre_scores_gemma":[0.9984511,0.0001508446,0.0006273373,0.0002220696,0.0001187229,0.00001149439,0.00006018711,0.000009619069,0.0003487905],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002656252,"threshold_uncertainty_score":0.005394876,"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."}}