{"id":"W2775797405","doi":"10.1212/nxg.0000000000000200","title":"<i>CDKL5</i> variants","year":2017,"lang":"he","type":"article","venue":"Neurology Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; University of Colorado School of Medicine, Anschutz Medical Campus; International Foundation for CDKL5 Research; Max-Planck-Gesellschaft; Bundesministerium für Bildung und Forschung; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Economic and Social Research Council; Curtin University of Technology; Rosetrees Trust; Children's Hospital Colorado; Mallinckrodt Pharmaceuticals; Actelion Pharmaceuticals; National Health and Medical Research Council; LouLou Foundation; Rett Syndrome Association of Australia; Edimer Pharmaceuticals; Questcor Pharmaceuticals; Citizens United for Research in Epilepsy; University of Pennsylvania; Rett Syndrome Research Trust; AveXis; Biogen","keywords":"Missense mutation; Biology; Nonsense; Exon; Genetics; RNA splicing; Population; Alternative splicing; Allele; Gene; Computational biology; Bioinformatics; Mutation; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002161425,0.0005966722,0.0004196547,0.00007252978,0.001091661,0.0002761216,0.001751992,0.0008457655,0.0001827133],"category_scores_gemma":[0.0001970121,0.0006815385,0.0002236904,0.00005284171,0.001173488,0.000006365725,0.001496098,0.0004688773,0.0004339718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000810573,"about_ca_system_score_gemma":0.0002823526,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003839144,"about_ca_topic_score_gemma":0.0002223707,"domain_scores_codex":[0.9966672,0.0001886363,0.0005324266,0.001321402,0.0002966576,0.0009936726],"domain_scores_gemma":[0.9964716,0.00002035817,0.0004653056,0.002565628,0.0001457598,0.000331389],"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":[0.0007965898,0.0007807501,0.1242843,0.0001396024,0.0004962471,0.0003578099,0.000178609,0.000386755,0.7834308,0.0003874752,0.04582394,0.04293719],"study_design_scores_gemma":[0.002257605,0.001993097,0.5960931,0.00001393759,0.000134378,0.0001617236,0.00002292234,0.0003110435,0.04362439,0.0003459469,0.3540995,0.0009424115],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9654186,0.004221476,0.0001641729,0.005473167,0.003905579,0.0004696956,0.0001154799,0.000020429,0.02021145],"genre_scores_gemma":[0.9780681,0.01243814,0.0004802838,0.005847992,0.0003310302,0.0000208789,0.00007259884,0.000129135,0.002611814],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7398064,"threshold_uncertainty_score":0.9995636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0137163320226199,"score_gpt":0.2506154975131634,"score_spread":0.2368991654905435,"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."}}