{"id":"W2146922855","doi":"10.1016/j.atherosclerosis.2013.09.007","title":"APOE p.Leu167del mutation in familial hypercholesterolemia","year":2013,"lang":"en","type":"article","venue":"Atherosclerosis","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":104,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; Royal Victoria Hospital; Université de Montréal; Royal Victoria Regional Health Centre; McGill University Health Centre","funders":"National Heart, Lung, and Blood Institute; King Abdulaziz University","keywords":"PCSK9; Kexin; Proband; Apolipoprotein E; LDL receptor; Genetics; Apolipoprotein B; Exome sequencing; Familial hypercholesterolemia; Mutation; Biology; Candidate gene; Lipoprotein; Gene; Molecular biology; Cholesterol; Internal medicine; Endocrinology; Medicine","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":[0.0004245172,0.0007341802,0.0004428629,0.0009929655,0.0006123801,0.0003859114,0.0003771562,0.001668382,0.002555924],"category_scores_gemma":[0.001467591,0.0003052604,0.0004215587,0.0004333883,0.0004517651,0.0002786296,0.0003374902,0.0004581646,0.0007219263],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002745965,"about_ca_system_score_gemma":0.0003347464,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002700695,"about_ca_topic_score_gemma":0.002131485,"domain_scores_codex":[0.9997433,0.00006105283,0.00005807059,0.00003651741,0.00005731501,0.00004376168],"domain_scores_gemma":[0.999575,0.0001702157,0.00008365087,0.00002618526,0.00004915809,0.00009577294],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00323117,0.0004026425,0.3056453,0.0001556494,0.0002164474,0.6309496,0.0008028097,0.0005128515,0.04064754,0.001178367,0.001946592,0.01431097],"study_design_scores_gemma":[0.0003794933,0.0009338559,0.3518603,0.0001972379,0.0006322467,0.6249951,0.0008780535,0.003666938,0.0112643,0.002260962,0.002836459,0.00009513437],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959937,0.0006337768,0.0004662262,0.0005294088,0.0001365745,0.00001420217,0.0000639022,0.00002763559,0.002134537],"genre_scores_gemma":[0.999185,0.00009671482,0.0001597747,0.0000832115,0.00007413261,0.000002809489,0.00002505962,0.000004954422,0.0003682998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002700695,"threshold_uncertainty_score":0.008550465,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01969686184882035,"score_gpt":0.2481488969853942,"score_spread":0.2284520351365739,"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."}}