{"id":"W2887868549","doi":"10.1016/j.braindev.2018.07.015","title":"Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival","year":2018,"lang":"en","type":"review","venue":"Brain and Development","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Sultan Qaboos University; Utah Agricultural Experiment Station","keywords":"Proband; Exome sequencing; Biology; Genetics; Zellweger syndrome; Bioinformatics; Phenotype; Medicine; Internal medicine; Peroxisome; Gene; Mutation","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001870175,0.0005579882,0.000735056,0.0001168522,0.0002165526,0.00007042328,0.0001843452,0.0005550332,0.00003426299],"category_scores_gemma":[0.00006432817,0.0004052104,0.0001006946,0.0001660449,0.00034058,0.000005596383,0.0003393523,0.000183828,0.00002163911],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004090841,"about_ca_system_score_gemma":0.0004038381,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003318653,"about_ca_topic_score_gemma":0.00003562496,"domain_scores_codex":[0.9979856,0.0001171146,0.000407036,0.0008809354,0.0001986718,0.0004106373],"domain_scores_gemma":[0.9991769,0.00004470885,0.0001294741,0.0003035837,0.0000650365,0.0002803551],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004410915,0.0006570529,0.006025961,0.008756496,0.002643407,0.00002852461,0.0003705675,1.967648e-7,0.00375682,0.0001103544,0.01548111,0.9617284],"study_design_scores_gemma":[0.0003997528,0.0001271167,0.0004796861,0.0007424892,0.0000687931,0.00009498193,0.00002676167,2.297462e-7,0.001918375,0.000001357514,0.9954793,0.000661118],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.04749351,0.9512731,0.0003512523,0.0001021765,0.0001265106,0.0005090254,0.00006333583,0.00002896379,0.00005207879],"genre_scores_gemma":[0.001024452,0.9947214,0.002219126,0.0001258919,0.0002781688,0.0001813315,0.000925793,0.00008795056,0.0004358948],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9799982,"threshold_uncertainty_score":0.99984,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0272984933551297,"score_gpt":0.2933361686067599,"score_spread":0.2660376752516302,"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."}}