{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001411391,0.0009713835,0.0003847662,0.001246485,0.0004165306,0.0004423277,0.0002823023,0.0009936928,0.006293271],"category_scores_gemma":[0.0004953572,0.00025699,0.0005373478,0.001001898,0.0004619254,0.0001466293,0.000622369,0.0004352694,0.00112771],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002421599,"about_ca_system_score_gemma":0.000139174,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001935371,"about_ca_topic_score_gemma":0.00185885,"domain_scores_codex":[0.9997533,0.00002782661,0.00002929399,0.0001060439,0.00005085531,0.00003261392],"domain_scores_gemma":[0.9998374,0.00003980553,0.00006526192,0.00001561724,0.000010167,0.00003172515],"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":[0.002918089,0.0002742802,0.1634401,0.0006134099,0.001139006,0.1406497,0.0009076535,0.001163536,0.6210251,0.001978044,0.004702692,0.06118831],"study_design_scores_gemma":[0.0002366214,0.0003477896,0.8166267,0.0002321479,0.0006456962,0.1343789,0.0004316359,0.00185643,0.02896071,0.001894625,0.01430993,0.0000787665],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889712,0.001158406,0.00244634,0.0002390875,0.00005135286,0.00004929395,0.0029708,0.0002338548,0.0038797],"genre_scores_gemma":[0.995161,0.0006152436,0.001222582,0.0001359241,0.00002393863,0.00002471879,0.001555278,0.00004915366,0.001212058],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006293271,"threshold_uncertainty_score":0.02105308,"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."}}