{"id":"W3164881564","doi":"10.1177/23247096211022484","title":"Abetalipoproteinemia Due to a Novel Splicing Variant in <i>MTTP</i> in 3 Siblings","year":2021,"lang":"en","type":"article","venue":"Journal of Investigative Medicine High Impact Case Reports","topic":"Chronic Lymphocytic Leukemia Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University; Queen's University","funders":"Canadian Institutes of Health Research; Heart and Stroke Foundation of Canada","keywords":"Microsomal triglyceride transfer protein; Medicine; Apolipoprotein B; Malabsorption; Pediatrics; Genetics; Internal medicine; Endocrinology; Biology; Very low-density lipoprotein; Lipoprotein; Cholesterol","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003776367,0.001884078,0.0008591082,0.001208393,0.001916355,0.0009349781,0.00106937,0.002305135,0.002405386],"category_scores_gemma":[0.002052077,0.001125831,0.001104383,0.0006749543,0.001450175,0.0008809927,0.001423966,0.002297006,0.0005993682],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009386135,"about_ca_system_score_gemma":0.0008161546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002856686,"about_ca_topic_score_gemma":0.002080654,"domain_scores_codex":[0.9992989,0.00007221027,0.00009804827,0.0002126227,0.0001660896,0.0001520732],"domain_scores_gemma":[0.9989562,0.0001905239,0.0002239241,0.00005678607,0.00008068926,0.0004918511],"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":[0.00004936118,0.00007911256,0.01611147,0.00002429502,0.00002535658,0.9757004,0.000644453,0.00008337173,0.005082502,0.0003310581,0.0003371118,0.001531541],"study_design_scores_gemma":[0.00002203501,0.0001787818,0.01709305,0.0000141145,0.00002527965,0.9797885,0.0001706229,0.0002613995,0.00140321,0.0002165109,0.0008025556,0.00002399333],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933116,0.0004031853,0.001688299,0.0008820257,0.0001728102,0.00009346224,0.0001978362,0.0001256858,0.003125091],"genre_scores_gemma":[0.9970171,0.0002204776,0.0009185629,0.0003907205,0.0001079022,0.00002357456,0.00009548005,0.00003995798,0.00118618],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002856686,"threshold_uncertainty_score":0.008046806,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04657255979630549,"score_gpt":0.3487031214277661,"score_spread":0.3021305616314606,"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."}}