{"id":"W2070334570","doi":"10.1016/j.ajhg.2014.10.003","title":"A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency","year":2014,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":131,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Heart, Lung, and Blood Institute","keywords":"Plasmalogen; Chondrodysplasia punctata; Microcephaly; Peroxisomal disorder; Biology; Reductase; Genetics; Endocrinology; Internal medicine; Biochemistry; Medicine; Peroxisome; Gene; Enzyme; Phospholipid","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":[0.0003819473,0.003569271,0.0009162085,0.002565567,0.001990557,0.0005066954,0.001066326,0.001522012,0.002678439],"category_scores_gemma":[0.002144916,0.0005077033,0.0008171059,0.001363068,0.0014917,0.0005852102,0.001287319,0.001377576,0.000525538],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009346842,"about_ca_system_score_gemma":0.001409817,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007153761,"about_ca_topic_score_gemma":0.008177887,"domain_scores_codex":[0.9995294,0.000059265,0.0000772067,0.00008800093,0.0001388741,0.0001072145],"domain_scores_gemma":[0.9988527,0.0003693819,0.0002402074,0.00004478303,0.00008906221,0.0004038792],"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":[0.001298374,0.0002227854,0.01683016,0.0001534352,0.0001471671,0.9552211,0.0004621356,0.0003171596,0.01320115,0.002113477,0.001603608,0.008429497],"study_design_scores_gemma":[0.0002809797,0.0006621819,0.07574351,0.00004639463,0.0001659228,0.9119747,0.0003139679,0.001241587,0.004046106,0.002107578,0.00335093,0.00006606318],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9717171,0.001727423,0.00280595,0.003294622,0.0004163249,0.0002403491,0.00112102,0.0003085213,0.01836871],"genre_scores_gemma":[0.9935895,0.000488955,0.001409969,0.0004081793,0.0002711429,0.00003415398,0.0004657479,0.00004516269,0.003287197],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007153761,"threshold_uncertainty_score":0.01422423,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008841576046154709,"score_gpt":0.2601488116061828,"score_spread":0.2513072355600281,"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."}}