{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003500968,0.002400447,0.001467716,0.003356767,0.003303845,0.001951664,0.00149034,0.006936145,0.002292351],"category_scores_gemma":[0.003194033,0.001384377,0.001104138,0.001761688,0.002796344,0.00250652,0.002268818,0.003317258,0.0006858961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001737298,"about_ca_system_score_gemma":0.00143559,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005299941,"about_ca_topic_score_gemma":0.004619095,"domain_scores_codex":[0.9990344,0.0001019858,0.00008833219,0.0002954544,0.000186574,0.0002932044],"domain_scores_gemma":[0.9979966,0.0004906608,0.0006757694,0.0001145674,0.00009949895,0.0006228656],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000009819125,0.00001329712,0.001508478,0.00001229695,0.000003758608,0.997477,0.00006809859,0.00001902026,0.0003176741,0.000130218,0.00009732781,0.0003430179],"study_design_scores_gemma":[0.00000368883,0.000008325943,0.0007019129,0.000003421711,0.000005474442,0.99879,0.00004219586,0.00004877038,0.0001399024,0.00006623795,0.0001853195,0.000004868309],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9675823,0.009635645,0.003983305,0.005192551,0.0004778507,0.0002172932,0.0003390757,0.00024631,0.01232547],"genre_scores_gemma":[0.9922934,0.002019137,0.002105503,0.0006798933,0.000694728,0.00003336507,0.00009050429,0.00003085797,0.002052585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006936145,"threshold_uncertainty_score":0.01260501,"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."}}