{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002469546,0.002974183,0.0005384306,0.001269588,0.0006937099,0.0004947796,0.0005536682,0.001355564,0.005020621],"category_scores_gemma":[0.0006169927,0.000315664,0.0005073366,0.0008219202,0.0008310937,0.0002332063,0.0006891993,0.000791943,0.000646649],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005645222,"about_ca_system_score_gemma":0.0004281113,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002721125,"about_ca_topic_score_gemma":0.003151836,"domain_scores_codex":[0.9996732,0.00004869983,0.00003905528,0.0001079191,0.00009938801,0.00003172968],"domain_scores_gemma":[0.9995916,0.0000974263,0.0001601803,0.00002697023,0.00002967163,0.0000941444],"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":[0.0007747296,0.0001322039,0.01434712,0.0001796555,0.0003756051,0.1627521,0.0004090754,0.0008845986,0.806737,0.002150866,0.001969888,0.009287123],"study_design_scores_gemma":[0.0002968775,0.0006047015,0.1742356,0.000207152,0.0007975441,0.4286728,0.0005927545,0.005862039,0.3606927,0.002060165,0.02583159,0.000146276],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9821153,0.001749702,0.008137526,0.0005362371,0.0003367887,0.00007584472,0.002464594,0.0004996714,0.004084199],"genre_scores_gemma":[0.9921855,0.0005305559,0.003152413,0.0002109395,0.0000877565,0.00003233077,0.0007871125,0.0001344023,0.002878946],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005020621,"threshold_uncertainty_score":0,"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."}}