{"id":"W4206367302","doi":"10.21065/19257430.74.2","title":"A VERY RARE GENETIC DISEASE LAURENCE MOON BARDET BEIDLE SYNDROME AND SUBSTANDARD PHARMACEUTICAL CARE PROVISION TO THE PATIENT AND IMPROPER THERAPY AND MONITORING; A CASE REPORT","year":2012,"lang":"en","type":"article","venue":"Canadian Journal of Applied Sciences","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Genetic disorder; Disease; Rare disease; Intensive care medicine; Medicine; Genetic Condition; Pediatrics; Pathology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000201029,0.0001054183,0.00009705202,0.00005027726,0.0003087812,0.00009034047,0.00009862282,0.0000339269,0.00000631312],"category_scores_gemma":[0.00004506587,0.00006717537,0.00002285259,0.00007237573,0.000277691,0.000009575265,0.00003569161,0.0000606676,3.336542e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001361516,"about_ca_system_score_gemma":0.0005514208,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001300852,"about_ca_topic_score_gemma":0.000164288,"domain_scores_codex":[0.9992253,0.00002538533,0.0001532024,0.0001895383,0.0001555575,0.0002509798],"domain_scores_gemma":[0.9985257,0.00000841421,0.00006102826,0.0001116008,0.00007216889,0.001221092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001124122,0.0001298208,0.6476972,0.0002359385,0.0002048594,0.01604742,0.01846764,0.0003553703,0.1539652,0.00004551088,0.003545098,0.1581818],"study_design_scores_gemma":[0.002279966,0.003250982,0.7691273,0.0002255429,0.0002956131,0.05922975,0.02393196,0.00006354975,0.0581429,0.0001344499,0.0821398,0.001178194],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9751537,0.02419533,0.0000155913,0.0002196252,0.0001215524,0.0002163194,0.00003260472,0.000001092666,0.00004415421],"genre_scores_gemma":[0.9990917,0.0002456702,0.0003461352,0.0001875011,0.0001055868,0.00001008468,0.000001480295,0.00000623734,0.000005538132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1570036,"threshold_uncertainty_score":0.2739332,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01654058320570301,"score_gpt":0.2572800167317486,"score_spread":0.2407394335260456,"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."}}