{"id":"W2168417024","doi":"10.1111/j.1399-0004.2010.01498.x","title":"Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs","year":2010,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Phenotype; Peroxisomal disorder; Biology; Complementation; Genetics; Allele; Genotype; Genetic heterogeneity; Peroxisome; Population; Zellweger syndrome; Gene; Medicine","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":[0.0003677824,0.0001834745,0.0003554754,0.00004963033,0.00002389457,0.00001632776,0.0002309251,0.0005741194,0.00002190076],"category_scores_gemma":[0.0008251118,0.0001788216,0.0001534891,0.0001179425,0.0005519981,0.000004275447,0.0001616702,0.0003897902,0.000004877919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003194238,"about_ca_system_score_gemma":0.0001118321,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001149289,"about_ca_topic_score_gemma":0.000002895744,"domain_scores_codex":[0.9980307,0.0001676966,0.0008965479,0.0005373483,0.0001339769,0.0002337382],"domain_scores_gemma":[0.9989113,0.00006665954,0.0002099234,0.000463483,0.0001064059,0.0002421912],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00007369537,0.0002609213,0.3518007,0.00001237348,0.00002298026,0.000001734304,0.000004071462,5.473076e-7,0.6438138,0.0000109896,0.00004488507,0.003953343],"study_design_scores_gemma":[0.0008864913,0.0004106503,0.2654983,0.00001431048,0.00002789771,0.0000042319,0.000007172356,0.0000980617,0.729276,0.00005287779,0.00351451,0.0002095525],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985162,0.0004124647,0.0001852384,0.0001046094,0.0004766812,0.0002044115,0.00004632982,0.00001095568,0.00004308141],"genre_scores_gemma":[0.9962117,0.001521107,0.001324199,0.0003275233,0.0003810971,0.00001262759,0.0001668187,0.00003158358,0.00002334089],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0863024,"threshold_uncertainty_score":0.7292132,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01455909784340643,"score_gpt":0.3239839334518689,"score_spread":0.3094248356084625,"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."}}