{"id":"W2839028882","doi":"10.1093/brain/awy173","title":"BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells","year":2018,"lang":"en","type":"article","venue":"Brain","topic":"NF-κB Signaling Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":134,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"CHIST-ERA; National Institute of Child Health and Human Development; National Human Genome Research Institute; National Institutes of Health; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Studienstiftung des Deutschen Volkes; Fundação de Amparo à Pesquisa do Estado de São Paulo; Deutsche Forschungsgemeinschaft; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Agence Nationale de la Recherche; California Department of Fish and Game","keywords":"Missense mutation; Biology; Frameshift mutation; Immune system; Mutation; Genetics; Germline mutation; Nonsense mutation; Immunology; Cancer research; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00006574475,0.000122782,0.00008217973,0.0000440822,0.00005290701,0.00001489244,0.000109333,0.00007286994,0.00002538117],"category_scores_gemma":[0.00006713202,0.0001141766,0.00001592968,0.0002088672,0.00007791201,0.000003665456,0.00005176371,0.00004617715,0.00003578676],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001972733,"about_ca_system_score_gemma":0.00009180589,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003286029,"about_ca_topic_score_gemma":0.00009154557,"domain_scores_codex":[0.9992283,0.00006076492,0.0001248736,0.0002869672,0.0001000175,0.0001990708],"domain_scores_gemma":[0.9996484,0.000008517409,0.00004896632,0.0001660599,0.00008042347,0.00004761455],"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":[0.0001031167,0.0001655948,0.007966423,0.00000418225,0.00001459738,0.000001642758,0.0001558936,0.00001002531,0.9842702,0.000003589789,0.006488907,0.0008158586],"study_design_scores_gemma":[0.002365366,0.0009877795,0.04575575,0.00001962703,0.000006483707,0.000004227031,0.00003536425,0.00004096424,0.9363152,0.00001084124,0.01416248,0.0002959437],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989469,0.00002294793,0.00008886055,0.00007541196,0.0001176241,0.0002084747,0.00003165906,0.00001650887,0.0004916193],"genre_scores_gemma":[0.9978454,0.000002214467,0.0005423077,0.0004283891,0.00003582567,0.0000157403,0.0004876522,0.00002809537,0.000614401],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.047955,"threshold_uncertainty_score":0.4655988,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003844784980975653,"score_gpt":0.2077078853492348,"score_spread":0.2038631003682591,"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."}}