{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007328865,0.0002332153,0.0002150956,0.0002304685,0.0007868026,0.00003685071,0.0001670618,0.00005179803,0.000832182],"category_scores_gemma":[0.00001536707,0.0002034865,0.0002614463,0.0006601281,0.0001115289,0.0001156426,0.00007720113,0.0004372906,0.0000416653],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005963723,"about_ca_system_score_gemma":0.0001677124,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006365185,"about_ca_topic_score_gemma":0.00001042527,"domain_scores_codex":[0.9982252,0.0001499396,0.0002394421,0.0004956433,0.0005322568,0.0003575447],"domain_scores_gemma":[0.9990217,0.00002446674,0.00009687866,0.0006064271,0.00005291405,0.0001976327],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006463653,0.03526727,0.3275248,0.001760495,0.01123636,0.01252996,0.002702138,0.1703386,0.1551412,0.02933266,0.02554869,0.2221542],"study_design_scores_gemma":[0.003239339,0.001613781,0.9241162,0.00001724042,0.001557032,0.0046031,0.0004505385,0.001378892,0.00002380467,0.0008079204,0.06174819,0.0004439593],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9837732,0.001437467,0.001824016,0.009202778,0.0003741281,0.001112718,0.00004558362,0.0003294987,0.001900665],"genre_scores_gemma":[0.9971711,0.0002360495,0.00005679507,0.001029394,0.00002688054,0.0003529783,0.0002439548,0.00008113739,0.0008016966],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5965914,"threshold_uncertainty_score":0.9111809,"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."}}