{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004652928,0.0002841817,0.001115308,0.0002473643,0.00005570492,0.00001471647,0.0002289796,0.0004799353,0.000024691],"category_scores_gemma":[0.001369185,0.0001917096,0.0003626134,0.0005820966,0.000476061,0.00008955203,0.00007511203,0.001033797,3.981883e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001857719,"about_ca_system_score_gemma":0.0001630961,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002255681,"about_ca_topic_score_gemma":0.0007558501,"domain_scores_codex":[0.9966984,0.0002225288,0.001828589,0.0003242543,0.0005250064,0.0004011555],"domain_scores_gemma":[0.9981348,0.0002577186,0.0008825619,0.0003490052,0.0001948507,0.0001810884],"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":[0.002429551,0.0005941405,0.03187252,0.0003790366,0.0001676658,0.0005871638,0.001814524,0.0001261523,0.9479709,0.00003952927,0.000008715913,0.01401015],"study_design_scores_gemma":[0.01048052,0.001798163,0.4560354,0.001629729,0.0001204983,0.0005692335,0.007413753,0.00009001666,0.5192464,0.002164721,0.00008294588,0.0003686155],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968106,0.001667943,0.00007135722,0.0002199962,0.000049158,0.0005859215,0.00001427789,0.00001168421,0.0005691099],"genre_scores_gemma":[0.9982477,0.00008698629,0.001230354,0.0000516007,0.0002926774,0.00001637231,0.00002963869,0.00001916582,0.00002546231],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4287244,"threshold_uncertainty_score":0.7817692,"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."}}