{"id":"W2050005611","doi":"10.1074/jbc.m702442200","title":"Missense Mutations in APOB within the βα1 Domain of Human APOB-100 Result in Impaired Secretion of ApoB and ApoB-containing Lipoproteins in Familial Hypobetalipoproteinemia","year":2007,"lang":"en","type":"article","venue":"Journal of Biological Chemistry","topic":"Diabetes, Cardiovascular Risks, and Lipoproteins","field":"Medicine","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials; University of Alberta; Dalhousie University; University of Ottawa","funders":"National Heart, Lung, and Blood Institute","keywords":"Apolipoprotein B; Missense mutation; Mutant; Secretion; Mutation; Microsomal triglyceride transfer protein; Nonsynonymous substitution; Genetics; Chemistry; Endocrinology; Internal medicine; Molecular biology; Biology; Very low-density lipoprotein; Gene; Lipoprotein; Medicine; 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":[0.0001599048,0.0005358487,0.0002264583,0.0004702841,0.0001754678,0.0002175666,0.0001577133,0.0004926778,0.000649424],"category_scores_gemma":[0.0003412739,0.0002108129,0.000249157,0.0002940334,0.0004178187,0.00009235806,0.0002363097,0.0003668703,0.0004907514],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001862299,"about_ca_system_score_gemma":0.0001000828,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008888553,"about_ca_topic_score_gemma":0.000831369,"domain_scores_codex":[0.9998767,0.00002077048,0.00002080878,0.00002357481,0.00004187297,0.00001625109],"domain_scores_gemma":[0.9998784,0.00002858401,0.00003358903,0.000009920683,0.000009529651,0.00003991939],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003854469,0.00007799437,0.008501109,0.00003417971,0.00004046522,0.004413418,0.0001170071,0.00008365005,0.9831828,0.00004715999,0.0001462592,0.002970553],"study_design_scores_gemma":[0.0003000826,0.001201489,0.3726025,0.0000594428,0.0002341145,0.09030486,0.0002957267,0.003497495,0.5269622,0.0003423961,0.004128492,0.0000711199],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989562,0.0001853152,0.0005514024,0.00002368894,0.000007639926,0.000008082832,0.00009456879,0.00002587222,0.0001472666],"genre_scores_gemma":[0.9988433,0.0001493996,0.0005195967,0.00002886071,0.000005532681,0.000006389751,0.0001801063,0.00001279721,0.0002541096],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008888553,"threshold_uncertainty_score":0.00217253,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02283120318847191,"score_gpt":0.274991129180043,"score_spread":0.2521599259915711,"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."}}