{"id":"W2946664140","doi":"10.1093/brain/awz107","title":"The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations","year":2019,"lang":"en","type":"article","venue":"Brain","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario; University of British Columbia","funders":"Niilo Helanderin Säätiö; National Human Genome Research Institute; Medical Research Council; Department of Health and Aged Care, Australian Government; University of Oxford; University College London; Vrije Universiteit Amsterdam; Wellcome Trust; National Institute for Health and Care Research; Università degli Studi di Siena; United States Pharmacopeia","keywords":"Congenital myasthenic syndrome; Neuromuscular transmission; Neuromuscular junction; Ptosis; Hypotonia; Muscle weakness; Weakness; Acetylcholine receptor; Agrin; Biology; Proximal muscle weakness; Internal medicine; Congenital myopathy; Medicine; Endocrinology; Cardiology; Neuroscience; Muscle biopsy; Anatomy; Biopsy; Surgery; Receptor","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":[0.0006284267,0.00009785561,0.0002501287,0.00002170659,0.0001241916,0.00002001965,0.0002196151,0.00007591192,0.0002325659],"category_scores_gemma":[0.0006463947,0.00005210675,0.0002194916,0.0001605107,0.000187011,0.00002761005,0.00008311088,0.0002660722,0.0002191854],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001818466,"about_ca_system_score_gemma":0.0001253145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001212737,"about_ca_topic_score_gemma":0.0001124428,"domain_scores_codex":[0.9987085,0.000168124,0.0004688333,0.0001988743,0.0002590066,0.0001966894],"domain_scores_gemma":[0.9978041,0.00131838,0.0001764529,0.0005891752,0.00004421239,0.00006765943],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001230676,0.0007262987,0.9090083,0.00007830331,0.001339093,0.0001778755,0.003163849,0.00001491337,0.01929326,0.03224439,0.0131878,0.01953525],"study_design_scores_gemma":[0.002386379,0.0003174049,0.975543,0.00009940806,0.0001002466,0.0001353906,0.0006556034,0.0004289453,0.0005244318,0.003297369,0.0164087,0.0001031626],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9853131,0.0001560876,0.00001052092,0.009904897,0.0004664937,0.0004961227,0.00004941259,0.00002219106,0.003581234],"genre_scores_gemma":[0.9940314,0.000005643513,0.000129113,0.0004599446,0.0001245218,0.000007084111,0.00001514201,0.00001847384,0.005208706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06653466,"threshold_uncertainty_score":0.2817258,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.018864582125405,"score_gpt":0.3013778738484533,"score_spread":0.2825132917230483,"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."}}