{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009109235,0.0004940232,0.0002678677,0.0007266066,0.000354721,0.0008412969,0.000550534,0.0004941751,0.002707713],"category_scores_gemma":[0.002680791,0.0001222484,0.0007242993,0.0005470484,0.0004294209,0.0003665969,0.0003725073,0.0005622183,0.0004144171],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005778518,"about_ca_system_score_gemma":0.0005821607,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005218818,"about_ca_topic_score_gemma":0.007780009,"domain_scores_codex":[0.9995251,0.00006619308,0.00006905458,0.0001978106,0.00009237536,0.00004953097],"domain_scores_gemma":[0.9991247,0.0003745838,0.000273486,0.0001020073,0.00007122011,0.0000540111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000881358,0.00009452151,0.8697159,0.0002296204,0.0006182457,0.002851359,0.0002594269,0.01185913,0.03650826,0.003162563,0.003552296,0.07026739],"study_design_scores_gemma":[0.0002668004,0.0003520174,0.8307363,0.0002063117,0.0009151843,0.01307405,0.0005563351,0.06097884,0.06511407,0.01219973,0.01548266,0.0001175951],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9473198,0.001178138,0.03982775,0.0007632182,0.00007414523,0.0001517137,0.005102067,0.0005846614,0.00499841],"genre_scores_gemma":[0.9835137,0.0002290871,0.01350955,0.0002529496,0.00004571015,0.00002381855,0.002066289,0.00004798266,0.0003108483],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005218818,"threshold_uncertainty_score":0.01037687,"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."}}