{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001853683,0.001609562,0.0004466499,0.001962611,0.0008666666,0.0006380457,0.0004422853,0.001379482,0.002302849],"category_scores_gemma":[0.0009465259,0.0004843599,0.0003272899,0.000862342,0.0007664414,0.0003318973,0.0005926416,0.0005466171,0.0003715705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004240185,"about_ca_system_score_gemma":0.0003527711,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002188962,"about_ca_topic_score_gemma":0.001845971,"domain_scores_codex":[0.999726,0.00002729597,0.00003867409,0.0001075828,0.00004905311,0.00005128245],"domain_scores_gemma":[0.9997378,0.00007035348,0.00007576378,0.00001408417,0.00002332888,0.00007855401],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002075383,0.0002486209,0.3765446,0.0002020439,0.0002022355,0.4511736,0.002077292,0.0007360399,0.1398642,0.0006138553,0.001075983,0.02518608],"study_design_scores_gemma":[0.0002160343,0.0005618267,0.3989169,0.0001025333,0.000301242,0.5706136,0.0009167782,0.00163596,0.02236242,0.0006012231,0.003701075,0.00007050949],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980575,0.0003612965,0.0004666,0.000087318,0.00001357708,0.00002730135,0.0002421227,0.00004812809,0.000696042],"genre_scores_gemma":[0.998735,0.0002454621,0.0004424352,0.00004977459,0.00001275213,0.00001307858,0.0001825477,0.0000129478,0.0003061586],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002302849,"threshold_uncertainty_score":0.007703841,"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."}}