{"id":"W2806701540","doi":"10.1093/hmg/ddy220","title":"Biallelic missense variants in ZBTB11 can cause intellectual disability in humans","year":2018,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; Centre for Addiction and Mental Health","funders":"Higher Education Commission Mauritius; Canadian Institutes of Health Research; Iran National Science Foundation","keywords":"Biology; Zinc finger; Genetics; Gene; Gene knockdown; Zebrafish; Drosophila melanogaster; RNA interference; Ribosome biogenesis; Transcription factor; Cell biology; RNA; Ribosome","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002569198,0.0002914726,0.0002525691,0.00009793905,0.00009378394,0.00004568062,0.0003936926,0.0002613669,0.00007798344],"category_scores_gemma":[0.0001243897,0.0003369481,0.00009457638,0.0002091605,0.0003633111,0.000001949963,0.0002685069,0.0001854138,0.00001864353],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008763317,"about_ca_system_score_gemma":0.00009901414,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002274155,"about_ca_topic_score_gemma":0.01265606,"domain_scores_codex":[0.9980221,0.0001561939,0.0004905375,0.0006577866,0.0001675898,0.0005058173],"domain_scores_gemma":[0.9988438,0.00001384831,0.0000838829,0.0008515435,0.00008296975,0.0001239531],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004863127,0.0003637601,0.02507719,0.00002733989,0.00004729215,0.00009740698,0.001046302,0.0005136317,0.9716868,0.0003254849,0.0002197303,0.0005463725],"study_design_scores_gemma":[0.006353224,0.003160268,0.6966737,0.000147448,0.000116029,0.0001207948,0.001051148,0.005832357,0.2680627,0.007200308,0.008306225,0.002975793],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978221,0.0002814809,0.0005006222,0.00007579783,0.0001165479,0.0003152433,0.00002164607,0.00001202942,0.0008545052],"genre_scores_gemma":[0.9981732,0.000111837,0.0009222466,0.0002859526,0.000166962,0.00001966941,0.0001374834,0.00006167836,0.0001209571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7036241,"threshold_uncertainty_score":0.9999083,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0158833160660209,"score_gpt":0.2669999386652109,"score_spread":0.25111662259919,"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."}}