{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002399862,0.0006369207,0.000265134,0.001097812,0.0003882859,0.0002670259,0.000152011,0.000270044,0.0008380836],"category_scores_gemma":[0.0008093154,0.0002069453,0.0002020512,0.0006184386,0.0002773204,0.0001722595,0.0002740886,0.0002266873,0.0002002172],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001725396,"about_ca_system_score_gemma":0.0001896908,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001475632,"about_ca_topic_score_gemma":0.0009662368,"domain_scores_codex":[0.9998047,0.0000556888,0.0000378757,0.00003690936,0.00003414508,0.00003072631],"domain_scores_gemma":[0.9997508,0.00004662811,0.00007556552,0.00001371361,0.00003613006,0.0000771649],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005154103,0.0001705851,0.926238,0.00005919414,0.00005189528,0.02586838,0.0007227333,0.0002556754,0.0309035,0.000161376,0.0003488215,0.01470434],"study_design_scores_gemma":[0.00003131894,0.0004513511,0.9179064,0.00002018473,0.00004851995,0.07644513,0.0006232587,0.0003111058,0.003209566,0.0001234415,0.0008127666,0.00001698345],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99902,0.0002625916,0.0001334606,0.00002494605,0.000002698483,0.000008547046,0.00007192671,0.000004129633,0.0004716005],"genre_scores_gemma":[0.9992113,0.0002382645,0.0001714745,0.00001939495,0.00000779031,0.000008124066,0.0001606498,0.000001708946,0.0001813008],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001475632,"threshold_uncertainty_score":0.002934098,"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."}}