{"id":"W3187022198","doi":"10.1111/cge.14033","title":"Epileptic encephalopathy caused by <scp>ARV1</scp> deficiency: Refinement of the genotype–phenotype spectrum and functional impact on <scp>GPI</scp> ‐anchored proteins","year":2021,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Ministero dell’Istruzione, dell’Università e della Ricerca; Region Syddanmark","keywords":"Phenotype; Genotype; Epilepsy; Genotype-phenotype distinction; Genetics; Biology; Gene; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003238884,0.0002477523,0.0002752772,0.00002789432,0.0001275826,0.00003754816,0.000204022,0.0002567503,0.00004226533],"category_scores_gemma":[0.001340769,0.0001856841,0.0002752587,0.0002012512,0.0003098604,0.000003341453,0.0002075295,0.0001923784,0.00002059537],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002420291,"about_ca_system_score_gemma":0.0004435871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004238184,"about_ca_topic_score_gemma":0.00001929169,"domain_scores_codex":[0.9978749,0.0002314443,0.0005994824,0.0005905148,0.000358154,0.0003455433],"domain_scores_gemma":[0.9983868,0.0001888293,0.0002574956,0.0007096377,0.0001813209,0.0002759436],"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":[0.0001122283,0.001816383,0.2615451,0.0001046109,0.0002879474,0.000014708,0.0001351418,0.002245805,0.6869113,0.0004962123,0.04154471,0.004785836],"study_design_scores_gemma":[0.001451021,0.001072254,0.8832089,0.00002564577,0.0001115656,0.000005622104,0.0000927515,0.0003804286,0.09551482,0.000581595,0.01746675,0.00008870479],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938339,0.003409436,0.000664559,0.0001855149,0.0003641633,0.0003656236,0.0001396046,0.00001178712,0.001025418],"genre_scores_gemma":[0.9957286,0.0006749615,0.0003188759,0.0006202396,0.0002843236,0.00001878211,0.0001655448,0.0000306544,0.002158043],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6216637,"threshold_uncertainty_score":0.7571979,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01959867924123604,"score_gpt":0.2855650606167245,"score_spread":0.2659663813754884,"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."}}