{"id":"W2887397898","doi":"10.1016/j.cjca.2018.08.027","title":"A Novel Cause of Familial Hypercholesterolemia: PCSK9 Gene Duplication","year":2018,"lang":"en","type":"letter","venue":"Canadian Journal of Cardiology","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Clinical Research Institute","funders":"","keywords":"Familial hypercholesterolemia; Medicine; PCSK9; LDL receptor; Apolipoprotein B; Internal medicine; Cholesterol; Endocrinology; Lipoprotein; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0003561713,0.001303511,0.001367059,0.001350613,0.001765723,0.001091034,0.001269668,0.00945146,0.002682805],"category_scores_gemma":[0.005129785,0.0005110058,0.001122185,0.001006416,0.001437806,0.001033078,0.001116536,0.004207972,0.0006331477],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00190397,"about_ca_system_score_gemma":0.001259497,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003710735,"about_ca_topic_score_gemma":0.003225581,"domain_scores_codex":[0.9991775,0.0001095516,0.00008802879,0.0002528628,0.0001671189,0.0002048603],"domain_scores_gemma":[0.9983683,0.0008040495,0.0001835805,0.00007865984,0.0001774921,0.0003879017],"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":[0.00006186499,0.0000172965,0.004218909,0.00001711347,0.000008076172,0.9919933,0.00006918719,0.00005877521,0.0006178643,0.0003808035,0.001731122,0.0008256442],"study_design_scores_gemma":[0.00005235002,0.00005759875,0.00537651,0.00002150833,0.00002927013,0.9907581,0.0001241826,0.0006359184,0.0004222241,0.0008067163,0.001701454,0.00001416984],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8408117,0.006257087,0.004418908,0.1172988,0.006365795,0.0001598977,0.0008000178,0.0003485971,0.0235391],"genre_scores_gemma":[0.9746622,0.001250951,0.001919207,0.00923771,0.008783943,0.00003320304,0.0001852298,0.00005996935,0.003867587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00945146,"threshold_uncertainty_score":0.01381433,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03132778756032079,"score_gpt":0.2576589286245864,"score_spread":0.2263311410642656,"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."}}