{"id":"W1684954821","doi":"10.25011/cim.v32i6s.11137","title":"CHARACTERIZATION OF A NEW LCAT MUTATION CAUSING FAMILIAL LCAT DEFICIENCY (FLD) AND THE ROLE OF APOE AS A MODIFIER GENE OF THE FLD PHENOTYPE","year":2009,"lang":"en","type":"article","venue":"Clinical and investigative medicine","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Clinical Research Institute","funders":"","keywords":"Tangier disease; Apolipoprotein E; Heterozygote advantage; Familial hypercholesterolemia; Genotype; Internal medicine; Endocrinology; Cholesterol; Biology; Lipoprotein; Genetics; Apolipoprotein B; Gene; Medicine; ABCA1; Disease","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":true,"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":[0.00008986862,0.0005645606,0.0002168403,0.0008246754,0.0005048316,0.0002105495,0.0002395973,0.0004902103,0.001420167],"category_scores_gemma":[0.0003733058,0.0001284471,0.0002509383,0.0003512557,0.0003838692,0.00007266416,0.0002216948,0.0002372405,0.0001835662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007261899,"about_ca_system_score_gemma":0.0005139307,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02860722,"about_ca_topic_score_gemma":0.02592241,"domain_scores_codex":[0.9998909,0.000006566026,0.000009671177,0.00003205904,0.00003676712,0.00002407247],"domain_scores_gemma":[0.9998506,0.00003888807,0.0000227967,0.00000734282,0.00002455917,0.00005583953],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006819976,0.0002201655,0.1284349,0.0002047443,0.0001191587,0.2268279,0.00148256,0.0003572301,0.619037,0.0006492782,0.0007409197,0.02124422],"study_design_scores_gemma":[0.0001409922,0.0007291583,0.5462918,0.00007610978,0.0002147097,0.3677968,0.0008557966,0.001964261,0.06779022,0.0001784955,0.01389912,0.00006243716],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979655,0.0003413453,0.0006250845,0.0001215169,0.00001604402,0.00002242639,0.0002245664,0.00002307508,0.0006605153],"genre_scores_gemma":[0.9973264,0.0002083574,0.001196724,0.00008933028,0.00001285487,0.000007274641,0.0003140287,0.000009630379,0.0008354094],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02860722,"threshold_uncertainty_score":0.05688143,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07556607884583001,"score_gpt":0.3178267195111842,"score_spread":0.2422606406653542,"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."}}