{"id":"W3114197133","doi":"10.1002/jimd.12349","title":"Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"King Abdulaziz University; E-Rare","keywords":"Phytanic acid; Peroxisomal disorder; Plasmalogen; Psychomotor learning; Zellweger syndrome; Medicine; Psychomotor retardation; Chondrodysplasia punctata; Pediatrics; Internal medicine; Endocrinology; Pathology; Genetics; Biology; Peroxisome; Receptor","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":[0.0002270616,0.0002322682,0.000511204,0.00009584198,0.00003384034,0.00003351402,0.0002832442,0.000174217,0.00003288001],"category_scores_gemma":[0.0006962531,0.000201112,0.0002602088,0.0003086023,0.000189602,0.00002689978,0.00009947793,0.0002512767,0.000002509388],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006155261,"about_ca_system_score_gemma":0.0002789151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":6.545649e-7,"about_ca_topic_score_gemma":4.767794e-8,"domain_scores_codex":[0.9981474,0.0001812074,0.0008701396,0.0003137653,0.0002823171,0.000205162],"domain_scores_gemma":[0.9979892,0.0000145054,0.0006891784,0.0002584703,0.0003223173,0.0007263316],"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":[0.0008322021,0.0002090799,0.006406466,0.00006755105,0.000253645,0.0000158042,0.00003400756,0.000002717857,0.9895496,0.00001306754,0.0009932044,0.001622679],"study_design_scores_gemma":[0.001749286,0.0003572263,0.02070051,0.00006542461,0.000256307,0.0000159875,0.0000344529,0.00005782333,0.9253064,0.000012888,0.05119442,0.0002493061],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924926,0.005469611,0.0005659711,0.0009847233,0.0002032427,0.0001644429,0.00009108378,0.000008647637,0.00001963886],"genre_scores_gemma":[0.9923887,0.004468035,0.0007170004,0.001738767,0.0005198706,0.0000054535,0.0001058545,0.00004217321,0.00001414732],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0642432,"threshold_uncertainty_score":0.8201111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01838845129680257,"score_gpt":0.2758275564272286,"score_spread":0.257439105130426,"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."}}