{"id":"W4210629333","doi":"10.1093/brain/awac034","title":"ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Human Genome Research Institute; Children’s Hospital Foundation; Canadian Institutes of Health Research; Norges Forskningsråd; Stichting Metakids; Children's Hospital Foundation","keywords":"Biology; Methylmalonic aciduria; Chromatin immunoprecipitation; Genetics; Phenotype; Gene; Transcriptome; Promoter; Gene expression; Methylmalonic acid; Endocrinology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00007275277,0.001138821,0.0002904216,0.0009069679,0.0002934545,0.0002651729,0.0002022127,0.0003778959,0.001707012],"category_scores_gemma":[0.0001670744,0.0001368377,0.0001396992,0.0004542267,0.0003743749,0.0001133446,0.0004051026,0.0002815456,0.0002686326],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002242384,"about_ca_system_score_gemma":0.0001845576,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001493272,"about_ca_topic_score_gemma":0.001736628,"domain_scores_codex":[0.999884,0.00001124598,0.00001316633,0.00004006294,0.00002929497,0.00002228459],"domain_scores_gemma":[0.99991,0.00001168865,0.00004016651,0.000004668156,0.000007247102,0.00002616468],"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":[0.0008192742,0.00006221494,0.05266947,0.0001750909,0.000137514,0.03506963,0.0002357018,0.0002401439,0.8956442,0.0005169025,0.0004253266,0.01400451],"study_design_scores_gemma":[0.00009796668,0.0004059189,0.5274132,0.00006349367,0.0002361694,0.2814015,0.0003957666,0.001306399,0.1825731,0.0008791493,0.005194404,0.0000330195],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963729,0.001099469,0.0009047582,0.00008081957,0.000006382647,0.000009190556,0.0005873743,0.00005649206,0.0008826776],"genre_scores_gemma":[0.9980348,0.0005303912,0.0004592645,0.00002319249,0.000004576258,0.000006304675,0.0004489149,0.0000120447,0.000480714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001707012,"threshold_uncertainty_score":0.005710542,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006156801750910984,"score_gpt":0.1971444728708246,"score_spread":0.1909876711199136,"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."}}