{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002187435,0.0007868835,0.0002823941,0.0006033079,0.0002138233,0.0002581888,0.0001866834,0.000269836,0.001099285],"category_scores_gemma":[0.0004492975,0.0001203369,0.000195193,0.0002404252,0.0002787744,0.0001403381,0.0002803542,0.000322929,0.0002139675],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001554917,"about_ca_system_score_gemma":0.0001045643,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006598432,"about_ca_topic_score_gemma":0.0005576693,"domain_scores_codex":[0.9998241,0.00004247226,0.00002875952,0.00004480966,0.00003594711,0.00002394785],"domain_scores_gemma":[0.9998406,0.00006188053,0.00003232498,0.00001979715,0.00001720929,0.00002825283],"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":[0.001014953,0.0001298129,0.0786868,0.0001081489,0.00008061879,0.04355012,0.0005471825,0.0006115513,0.8510075,0.0005870707,0.0002099993,0.0234662],"study_design_scores_gemma":[0.0001251015,0.001282268,0.4266472,0.00004989395,0.0001870524,0.3431932,0.000471294,0.003187797,0.219285,0.0005463015,0.004976522,0.00004834158],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987724,0.0001309991,0.0005341423,0.00002327502,0.000002149683,0.000007036914,0.00007806745,0.00001265992,0.0004392379],"genre_scores_gemma":[0.9989669,0.0001068416,0.0006123914,0.000009201978,0.000003349732,0.000004153007,0.0001282997,0.000007193966,0.0001616551],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001099285,"threshold_uncertainty_score":0.003677487,"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."}}