{"id":"W2276653452","doi":"10.1161/atvb.34.suppl_1.620","title":"Abstract 620: Identification of Novel ABCA1 Mutations in Families With Tangier Disease","year":2014,"lang":"en","type":"article","venue":"Arteriosclerosis Thrombosis and Vascular Biology","topic":"Caveolin-1 and cellular processes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Tangier disease; ABCA1; Genetics; Proband; Biology; Mutation; Coding region; Gene; Exon; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002171191,0.0001517705,0.0002145147,0.00007616641,0.00006410846,0.00002067638,0.0001121637,0.0001066471,0.00001048511],"category_scores_gemma":[0.00004786057,0.0001289705,0.00007889351,0.0001123563,0.0002237784,0.000009940954,0.00004936993,0.00005056301,0.000002358464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005267265,"about_ca_system_score_gemma":0.00003169608,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004811757,"about_ca_topic_score_gemma":0.0001462246,"domain_scores_codex":[0.9990464,0.00003647254,0.0002929062,0.0003688705,0.00007178198,0.000183496],"domain_scores_gemma":[0.999405,0.00001824412,0.0001222226,0.0003076551,0.00007650249,0.00007036253],"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":[0.000005899817,0.0001626729,0.1291791,0.00004985444,0.00005876025,1.180457e-8,0.00007395628,0.00004821331,0.8697231,0.0002731085,0.000007678427,0.000417594],"study_design_scores_gemma":[0.0007869798,0.0001491855,0.9794065,0.00003588129,0.0000478775,2.14797e-7,0.000135008,0.0001242986,0.01817701,0.00005069376,0.0009119989,0.0001743115],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932838,0.0001431489,0.00616873,0.0000987343,0.00004484271,0.0001421714,0.00003762594,0.000008139442,0.00007278127],"genre_scores_gemma":[0.9981287,0.001198631,0.0002371088,0.00009720234,0.00004590905,0.00004386753,0.0002264772,0.00001701513,0.00000507067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8515461,"threshold_uncertainty_score":0.5259263,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01626054409909767,"score_gpt":0.2539655194623731,"score_spread":0.2377049753632754,"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."}}