{"id":"W2606781181","doi":"10.1016/j.ymgme.2011.05.016","title":"X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism","year":2011,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Peroxisome Proliferator-Activated Receptors","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Adrenoleukodystrophy; Mutation; Peroxisomal disorder; Genetics; Biology; Germline mosaicism; Population; Allele; Mutant; Germline; Gene; Peroxisome; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001144887,0.0002497202,0.0002080811,0.00008190029,0.0001142984,0.00004097322,0.0001490858,0.0002312929,0.0000218581],"category_scores_gemma":[0.00004100429,0.000250759,0.00006709867,0.00009972857,0.0001747417,0.000005002282,0.0001585922,0.0001364426,0.000004137356],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007231476,"about_ca_system_score_gemma":0.00008192628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003260846,"about_ca_topic_score_gemma":0.000004725258,"domain_scores_codex":[0.9987666,0.00007968579,0.0002159578,0.0004477229,0.0001242182,0.0003658269],"domain_scores_gemma":[0.9992591,0.000004369381,0.00007122091,0.0003222465,0.00008944567,0.0002536082],"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":[0.00003011186,0.00004909372,0.001049985,0.000009636676,0.0001068873,0.00001683031,0.00025172,0.00001604433,0.9935086,0.0005817584,0.00003408854,0.004345255],"study_design_scores_gemma":[0.0008873672,0.0001186435,0.012501,0.000006964799,0.0001106081,0.000110831,0.00007469806,0.00009720781,0.9684907,0.001063412,0.01618814,0.0003504511],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9818826,0.01142479,0.005615001,0.00004814627,0.0001335404,0.0002006847,0.00002901747,0.00002119183,0.0006450824],"genre_scores_gemma":[0.9816419,0.001942824,0.01564203,0.0004125211,0.0001147057,0.00004196569,0.00005339098,0.00005235492,0.00009828807],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02501791,"threshold_uncertainty_score":0.9999945,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01139118090017265,"score_gpt":0.2227025931047491,"score_spread":0.2113114122045765,"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."}}