{"id":"W4402017489","doi":"10.1002/ajmg.a.63843","title":"Deletions in the <i>CDKL5</i> 5′ untranslated region lead to CDKL5 deficiency disorder","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Servier; International Foundation for CDKL5 Research; LouLou Foundation; Children's National Hospital; National Institute of Mental Health; Marinus Pharmaceuticals; AveXis; International Rett Syndrome Foundation; Jazz Pharmaceuticals; ACADIA Pharmaceuticals; Simons Foundation Autism Research Initiative; Ultragenyx Pharmaceutical; Zogenix; GW Pharmaceuticals; Dravet Syndrome Foundation; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Boston Children's Hospital","keywords":"Genetics; Rett syndrome; Biology; Mutation; 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":[0.0001066181,0.000537728,0.000183247,0.0003500893,0.0002615639,0.000151214,0.0001316192,0.0002421834,0.00133025],"category_scores_gemma":[0.0004037197,0.0001067667,0.0001381809,0.0001665433,0.0003550255,0.00009716645,0.0001893784,0.000216523,0.0002666819],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001571024,"about_ca_system_score_gemma":0.00009392513,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007363735,"about_ca_topic_score_gemma":0.0009860735,"domain_scores_codex":[0.9998823,0.00002078347,0.00001326858,0.00004488858,0.00001965528,0.00001904396],"domain_scores_gemma":[0.9998524,0.00006676179,0.00004251329,0.000006376669,0.000007647684,0.00002423023],"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":[0.0007320323,0.0001281883,0.1232964,0.0001324279,0.00010071,0.0437548,0.0007384168,0.001040981,0.8024802,0.0009801012,0.0008326336,0.0257831],"study_design_scores_gemma":[0.000113004,0.0009657366,0.570706,0.00007813184,0.0003063052,0.178386,0.0006331278,0.003884275,0.2344135,0.001091661,0.009379654,0.00004261808],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973769,0.0001929192,0.001279227,0.00004411909,0.000007834,0.000009232583,0.0001380259,0.00003655794,0.0009151069],"genre_scores_gemma":[0.9991174,0.00005179295,0.0005091514,0.00003309616,0.000004837051,0.000002605576,0.00008154821,0.000006981547,0.0001925039],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00133025,"threshold_uncertainty_score":0.004450142,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01083903040610881,"score_gpt":0.2755693148971982,"score_spread":0.2647302844910893,"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."}}