{"id":"W4296984924","doi":"10.1016/j.nmd.2022.09.007","title":"PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications","year":2022,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Polyomavirus and related diseases","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Health Network; Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Phenotype; Medicine; Congenital myasthenic syndrome; Salbutamol; Neuromuscular junction; Clinical phenotype; Genetic testing; Pediatrics; Bioinformatics; Neuroscience; Internal medicine; Genetics; Gene; Psychology; Biology","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":[0.0002138364,0.0006209731,0.000724581,0.0006437316,0.0006451953,0.0008830009,0.0004948397,0.002460388,0.004798916],"category_scores_gemma":[0.001341419,0.000136611,0.0003287086,0.0006006586,0.0006458634,0.001025602,0.0004540765,0.001030919,0.0005468039],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003512634,"about_ca_system_score_gemma":0.0004450671,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004876244,"about_ca_topic_score_gemma":0.000599333,"domain_scores_codex":[0.9998391,0.00003498783,0.00001899703,0.0000351109,0.00002891597,0.00004287027],"domain_scores_gemma":[0.9995111,0.0002232533,0.0001193236,0.00002268526,0.00003412249,0.00008962976],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005418346,0.0003012102,0.04895391,0.0005902842,0.0001143755,0.8458682,0.0002835502,0.0004169949,0.02474445,0.007342287,0.003457106,0.06738574],"study_design_scores_gemma":[0.000120226,0.0004991235,0.03261163,0.0003633121,0.0001205658,0.9459879,0.00052168,0.001059863,0.001987988,0.004854028,0.01184114,0.00003254569],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7521217,0.1531052,0.006275611,0.01546059,0.001287613,0.0001082694,0.0003620339,0.0002500975,0.07102904],"genre_scores_gemma":[0.9792541,0.01374656,0.001371688,0.001406061,0.00130436,0.00002108423,0.00009741978,0.00001116991,0.00278746],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004798916,"threshold_uncertainty_score":0.01605397,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006532007261728355,"score_gpt":0.2191412735432937,"score_spread":0.2126092662815653,"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."}}