{"id":"W206566669","doi":"10.1007/8904_2014_348","title":"Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease","year":2014,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"St. Paul's Hospital; Child and Family Research Institute; University of British Columbia","funders":"National University of Singapore","keywords":"Tangier disease; ABCA1; Genetics; Disease; Characterization (materials science); Biology; Medicine; Gene; Materials science; Internal medicine; Transporter; Nanotechnology","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":[0.0004329444,0.00185765,0.0004640086,0.003002895,0.001129495,0.0006577875,0.0005632811,0.001257534,0.002795744],"category_scores_gemma":[0.002309142,0.0004377476,0.0004345561,0.0009911503,0.001082976,0.0005532968,0.0004536826,0.0005088018,0.0003060633],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004423928,"about_ca_system_score_gemma":0.0003087222,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003043355,"about_ca_topic_score_gemma":0.001734793,"domain_scores_codex":[0.9996397,0.00004982842,0.00006284238,0.00009269884,0.00008459181,0.00007026625],"domain_scores_gemma":[0.9989653,0.0004848858,0.0001912177,0.00003561067,0.00009050271,0.0002325267],"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":[0.0006900231,0.0002279844,0.3101366,0.00007557678,0.00009296778,0.6263697,0.001785826,0.0006567781,0.05120965,0.0008794062,0.0005860371,0.007289511],"study_design_scores_gemma":[0.00007170567,0.0002882648,0.3099643,0.0000394182,0.0001692715,0.6767606,0.0006281546,0.001849394,0.008296391,0.0006783801,0.001197707,0.00005642166],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977102,0.0002677765,0.0002893717,0.0001396475,0.00001061007,0.00001218911,0.00009869772,0.00001863721,0.001452751],"genre_scores_gemma":[0.9993557,0.00008459706,0.0002416116,0.00003746861,0.00002324636,0.000005630788,0.00005187615,0.000006632071,0.0001931542],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003043355,"threshold_uncertainty_score":0.009352744,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01215765274043124,"score_gpt":0.2834038436601467,"score_spread":0.2712461909197155,"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."}}