{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002411367,0.0007775375,0.000474301,0.001511429,0.0003930496,0.0004163675,0.0003243199,0.0005350864,0.002055075],"category_scores_gemma":[0.001538015,0.0002743254,0.0002699801,0.000564826,0.0006947632,0.0002771354,0.0005322818,0.0002698021,0.000575106],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002441746,"about_ca_system_score_gemma":0.0002690987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002604238,"about_ca_topic_score_gemma":0.001591246,"domain_scores_codex":[0.9996194,0.00005495686,0.00007362995,0.0001252657,0.00005919803,0.00006755561],"domain_scores_gemma":[0.9992326,0.0001460604,0.000231293,0.00005570293,0.0001009554,0.0002332823],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005137012,0.0001416264,0.9291559,0.00008720323,0.00004513202,0.03976842,0.0005671149,0.0001989122,0.01824981,0.0001215533,0.0002452518,0.01090543],"study_design_scores_gemma":[0.00002477948,0.00062806,0.8963335,0.00001368873,0.00002937276,0.100462,0.0003054094,0.0001657801,0.001446459,0.0000531914,0.0005218858,0.00001579861],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985725,0.0002338229,0.0001709401,0.00001915879,0.000003132457,0.0000256314,0.0001827051,0.00001118915,0.0007808644],"genre_scores_gemma":[0.9990822,0.0001158916,0.0002188957,0.00002154588,0.000007215562,0.00001113285,0.0002053115,0.00000332714,0.0003344676],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002604238,"threshold_uncertainty_score":0.006874919,"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."}}