{"id":"W4230352024","doi":"10.1002/(sici)1098-1004(200003)15:3<294::aid-humu14>3.3.co;2-5","title":"Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #297 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/297.pdf","year":2000,"lang":"en","type":"article","venue":"Human Mutation","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials","funders":"","keywords":"Microsomal triglyceride transfer protein; Missense mutation; Biology; Genetics; Mutation; Nonsense mutation; Frameshift mutation; Apolipoprotein B; Compound heterozygosity; Gene mutation; Mutant; Gene; Molecular biology; Endocrinology; Lipoprotein; Cholesterol; Very low-density lipoprotein","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001650412,0.0008915865,0.001264721,0.001781101,0.00102844,0.0002798129,0.0004451836,0.0005783278,0.00219449],"category_scores_gemma":[0.0001625267,0.0009380875,0.0003550347,0.002680799,0.0003661065,0.00103213,0.00002512661,0.001444756,0.0001888803],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002295978,"about_ca_system_score_gemma":0.001595464,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.2327876,"about_ca_topic_score_gemma":0.5598173,"domain_scores_codex":[0.992556,0.0009934331,0.00242424,0.001191312,0.001476395,0.001358649],"domain_scores_gemma":[0.9965702,0.000109869,0.0004818944,0.001106194,0.0008664182,0.0008654337],"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":[0.009241575,0.01809907,0.05575147,0.005964614,0.004522836,0.02421392,0.06297969,0.0469204,0.3733414,0.002120042,0.002287825,0.3945571],"study_design_scores_gemma":[0.05955384,0.00493076,0.8585376,0.004748248,0.001352347,0.004016777,0.008237513,0.009871381,0.03705916,0.002765589,0.005231054,0.003695755],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9885257,0.001295737,0.000542331,0.00240227,0.00007814115,0.005726119,0.0003868471,0.0001956212,0.0008472459],"genre_scores_gemma":[0.9662765,0.0001305959,0.002610197,0.0008467125,0.000339528,0.0008533096,0.02715248,0.0002128806,0.00157779],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8027861,"threshold_uncertainty_score":0.999307,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01836720239801071,"score_gpt":0.2755404364581239,"score_spread":0.2571732340601132,"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."}}