{"id":"W2100194310","doi":"10.1136/jmg.2008.059980","title":"A <i>PCSK9</i> variant and familial combined hyperlipidaemia","year":2008,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Clinical Research Institute","funders":"","keywords":"PCSK9; LDL receptor; Internal medicine; Endocrinology; Genetics; Cholesterol; Biology; Mutation; Phenotype; Loss function; Lipoprotein; Gene; 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":[0.0002639911,0.001181201,0.0003449066,0.001145653,0.0009548081,0.0003706754,0.0003984871,0.00126475,0.004202541],"category_scores_gemma":[0.001052797,0.0002100685,0.0003616061,0.0008240964,0.0009039295,0.0002388738,0.0004523653,0.0008251137,0.0005915206],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003504376,"about_ca_system_score_gemma":0.0002812698,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002198948,"about_ca_topic_score_gemma":0.001638268,"domain_scores_codex":[0.999701,0.00004007961,0.00003550159,0.00009087755,0.00007521006,0.00005736415],"domain_scores_gemma":[0.9993708,0.0001591668,0.0001902259,0.00003367291,0.00005296109,0.0001932007],"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":[0.002934227,0.0007812386,0.3946244,0.0001573893,0.0004433786,0.5187793,0.000977323,0.0004564506,0.05824517,0.001513019,0.002715137,0.01837306],"study_design_scores_gemma":[0.0001892018,0.0007533227,0.2756709,0.00005118653,0.0002492992,0.7140474,0.0002523594,0.0006119443,0.005404612,0.0006836081,0.002057354,0.00002882679],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945416,0.0006807725,0.0005093195,0.000425781,0.00004881456,0.00001975232,0.0001035195,0.00004389083,0.003626584],"genre_scores_gemma":[0.9986073,0.0001337695,0.0002504653,0.0001089833,0.00009513195,0.000007218477,0.00006906346,0.00000728741,0.0007207997],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004202541,"threshold_uncertainty_score":0.01405889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01892522889941782,"score_gpt":0.2637908628099249,"score_spread":0.2448656339105071,"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."}}