{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000178152,0.001164187,0.0004967047,0.0007503941,0.0003824281,0.000246828,0.0002730094,0.0004359959,0.003464516],"category_scores_gemma":[0.001141582,0.0002800614,0.0002632248,0.0004471061,0.0005854068,0.0002192432,0.0006650095,0.0003185725,0.0004305836],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002403645,"about_ca_system_score_gemma":0.0001679195,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007520635,"about_ca_topic_score_gemma":0.0008238865,"domain_scores_codex":[0.9996588,0.00005823144,0.00005229154,0.0001031414,0.00006092757,0.00006664791],"domain_scores_gemma":[0.9995975,0.000116446,0.0001163709,0.00002062062,0.00004168511,0.0001073023],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001106743,0.00009162683,0.4207054,0.0004065297,0.0002395998,0.3993016,0.001119524,0.0008512257,0.1453117,0.0003213373,0.001072269,0.02947241],"study_design_scores_gemma":[0.000038012,0.0003240457,0.4281821,0.00004866136,0.00008099851,0.5645346,0.0002863106,0.0002000317,0.004851207,0.0001332007,0.001302608,0.00001817295],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964181,0.0006830822,0.0005164501,0.00006538458,0.000007366745,0.00002230683,0.0002273806,0.00002536746,0.002034501],"genre_scores_gemma":[0.9987754,0.0002820012,0.0003696602,0.00003953894,0.00001082211,0.00001236688,0.000145981,0.000008660837,0.0003554784],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003464516,"threshold_uncertainty_score":0.01158994,"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."}}