{"id":"W3112316077","doi":"10.1002/ajmg.a.62011","title":"<scp><i>CHRNB1</i></scp>‐associated congenital myasthenia syndrome: Expanding the clinical spectrum","year":2020,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institutes of Health; National Institute of General Medical Sciences; Burroughs Wellcome Fund","keywords":"Congenital myasthenic syndrome; Exome sequencing; Genetic heterogeneity; Myasthenia gravis; Neuromuscular junction; Exon; Acetylcholine receptor; Exome; Genetics; Medicine; Biology; Mutation; Bioinformatics; Gene; Internal medicine; Receptor; Neuroscience; Phenotype","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":[0.0001435249,0.0005042299,0.0002240145,0.0006289674,0.0002795847,0.0002322745,0.0002034718,0.000397308,0.001283219],"category_scores_gemma":[0.0005414774,0.00008358837,0.0001446475,0.0003786229,0.0004430275,0.0002418253,0.0003542278,0.0003511072,0.0002358381],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002118914,"about_ca_system_score_gemma":0.0002205397,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001530322,"about_ca_topic_score_gemma":0.001544062,"domain_scores_codex":[0.9998862,0.00001627575,0.00001382896,0.00003518513,0.000021179,0.00002726829],"domain_scores_gemma":[0.9997644,0.00007164165,0.0000527448,0.00001495679,0.00002636157,0.00006992296],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004147623,0.0001078532,0.2563339,0.0001967161,0.00005321472,0.4693604,0.001587484,0.000613847,0.1850762,0.002332939,0.002339304,0.08158333],"study_design_scores_gemma":[0.00003870793,0.0002038539,0.1608665,0.00005436873,0.00003967022,0.8222857,0.0002707586,0.0008111226,0.008829087,0.0005357028,0.006045506,0.00001899019],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896575,0.001730937,0.00185403,0.0005262473,0.00002261177,0.00001988077,0.0001342136,0.0000797149,0.005974795],"genre_scores_gemma":[0.9973751,0.0006062729,0.001302751,0.0001424767,0.00004749385,0.000005115794,0.00007032067,0.00001283155,0.0004377329],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001530322,"threshold_uncertainty_score":0.004292846,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03409624049318698,"score_gpt":0.3261347968189114,"score_spread":0.2920385563257244,"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."}}