{"id":"W2038036962","doi":"10.1002/humu.1205","title":"Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent","year":2001,"lang":"en","type":"article","venue":"Human Mutation","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials","funders":"Heart and Stroke Foundation of Canada","keywords":"LDL receptor; Familial hypercholesterolemia; Biology; Genetics; Gene; Descent (aeronautics); Mutation; Low-density lipoprotein; Lipoprotein; Internal medicine; Endocrinology; Cholesterol; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.0004467072,0.000158078,0.0003328626,0.0003204784,0.0001219962,0.0000168695,0.00006470184,0.0001259071,0.00006313399],"category_scores_gemma":[0.00006189175,0.0001488252,0.00008775223,0.0003330002,0.00007391616,0.0001026128,0.000009954998,0.000225832,0.00002761988],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005318896,"about_ca_system_score_gemma":0.0006842483,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5462787,"about_ca_topic_score_gemma":0.6710566,"domain_scores_codex":[0.9984123,0.0001071049,0.0003531263,0.000302515,0.0004516858,0.0003733183],"domain_scores_gemma":[0.9989924,0.00001351967,0.00009889835,0.0003562758,0.0002398418,0.0002990788],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001168006,0.001526482,0.3745374,0.001601258,0.0005551294,0.002411251,0.01380377,0.001901817,0.35855,0.0004226051,0.0002268933,0.2432953],"study_design_scores_gemma":[0.002882547,0.0004599085,0.9147551,0.0002593702,0.00008330245,0.0001836949,0.000341917,0.0001504191,0.08049983,0.00004597759,0.0001567673,0.0001811469],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976994,0.00006938778,0.0005084637,0.0002073215,0.00006379221,0.001032637,0.00001775038,0.00002789552,0.0003733251],"genre_scores_gemma":[0.9977823,0.00002215307,0.001236972,0.0002451538,0.0001889965,0.00005781497,0.0002712166,0.00002812672,0.0001672602],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5402177,"threshold_uncertainty_score":0.6068917,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01788581730759691,"score_gpt":0.2506410720139998,"score_spread":0.2327552547064029,"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."}}