{"id":"W3110806383","doi":"10.1016/j.isci.2020.101948","title":"Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease","year":2020,"lang":"en","type":"article","venue":"iScience","topic":"Microtubule and mitosis dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Eye Institute; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Agència de Gestió d'Ajuts Universitaris i de Recerca; Ataxia UK; Medical Research Council; Canadian Institutes of Health Research; Lily Foundation; Evelyn Trust; Bundesministerium für Bildung und Forschung; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Canada Research Chairs; National Heart and Lung Institute; AFM-Téléthon; Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen; Türkiye Bilimler Akademisi; CHEO Research Institute; Muscular Dystrophy Canada; Barcelona Institute of Science and Technology; European Research Council; Ministerio de Ciencia, Innovación y Universidades; Wellcome Trust; French Muscular Dystrophy Association; Muscular Dystrophy Association; Canada Foundation for Innovation; Newton Fund; Broad Institute","keywords":"Disease; Biology; Ring (chemistry); Neurodevelopmental disorder; Genetics; Neuroscience; Medicine; Chemistry; Gene; Pathology","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":[],"consensus_categories":[],"category_scores_codex":[0.00010166,0.000102869,0.00007964809,0.00002220643,0.0001146846,0.00005029538,0.0004167478,0.00002682868,0.00001920986],"category_scores_gemma":[0.0001234272,0.00008174212,0.00002956319,0.0002105947,0.00007016137,0.000008211208,0.0003152393,0.00007955116,0.00004446699],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001365129,"about_ca_system_score_gemma":0.00008732947,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001117915,"about_ca_topic_score_gemma":0.00003502852,"domain_scores_codex":[0.9990542,0.00003824313,0.0001421596,0.0003936488,0.0001179341,0.0002538375],"domain_scores_gemma":[0.9996088,0.000008783439,0.00003271921,0.0001698026,0.00001896842,0.000160898],"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":[0.00003336402,0.00001851717,0.006688677,0.000006298982,0.000002875284,0.00001563289,0.0005198624,0.0007921432,0.9887856,0.00005456311,0.0008485165,0.002234004],"study_design_scores_gemma":[0.001257219,0.0003811217,0.6543439,0.00009928569,0.0000210368,0.00003709225,0.0004937719,0.02943207,0.258568,0.00008555021,0.05424192,0.001039057],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931438,0.00008072564,0.002868233,0.003083755,0.0001062157,0.0001781752,0.00001393498,0.000009108006,0.0005160792],"genre_scores_gemma":[0.9928846,0.00001824558,0.0008445127,0.006007941,0.0000895762,0.0000141201,0.00001304449,0.000009065952,0.0001188533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7302176,"threshold_uncertainty_score":0.3333347,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02145645649525268,"score_gpt":0.2665204425022824,"score_spread":0.2450639860070297,"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."}}