{"id":"W2069694568","doi":"10.1097/00006324-200005000-00010","title":"Bardet-Biedl Syndrome","year":2000,"lang":"en","type":"article","venue":"Optometry and Vision Science","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Waterloo","funders":"","keywords":"Bardet–Biedl syndrome; Polydactyly; Retinitis pigmentosa; Medicine; Pediatrics; Dystrophy; Disease; Atrophy; Ciliopathy; Ophthalmology; Retinal; Internal medicine; Pathology; Anatomy; Genetics; Phenotype; Biology","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":[0.000237372,0.00008529583,0.00007346767,0.00007242079,0.0002085467,0.00006977611,0.000218833,0.00004577904,0.0003931522],"category_scores_gemma":[0.00006052072,0.00007114183,0.00002953195,0.000379862,0.0003719301,0.000009156357,0.00008771558,0.00003293601,0.00007475792],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003304779,"about_ca_system_score_gemma":0.00005685558,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001703663,"about_ca_topic_score_gemma":7.119188e-8,"domain_scores_codex":[0.9990933,0.00001483143,0.00009412923,0.0003724267,0.0002134993,0.0002118202],"domain_scores_gemma":[0.9994478,0.000005807271,0.00001682767,0.0002528105,0.00003758404,0.0002391926],"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":[0.0001188097,0.0001650478,0.02051804,0.00003429615,0.00001403806,0.00001781236,0.00004981325,0.00003417069,0.8924062,0.00003814617,0.004548219,0.08205539],"study_design_scores_gemma":[0.0009996005,0.00103881,0.7205067,0.00004927452,0.00002060986,0.0003281706,0.0001291564,0.0005602844,0.1351922,0.0001448766,0.1404666,0.0005637257],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9907821,0.0005890767,0.00009405928,0.00009113739,0.00006570382,0.00005548567,0.000008217674,0.00001248944,0.008301714],"genre_scores_gemma":[0.996012,0.0002489917,0.0007700615,0.0003863577,0.00003333846,0.00000299366,0.000006052493,0.000004865511,0.002535346],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.757214,"threshold_uncertainty_score":0.4304741,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00528443844423885,"score_gpt":0.356579473434209,"score_spread":0.3512950349899702,"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."}}