{"id":"W4400582554","doi":"10.3233/jnd-230235","title":"Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit","year":2024,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Deutsche Forschungsgemeinschaft; Canada First Research Excellence Fund; Canada Research Chairs; Government of Canada; European Commission; Alexander von Humboldt-Stiftung","keywords":"Frameshift mutation; Phenotype; Medicine; Protein subunit; Genetics; Mutation; Congenital myasthenic syndrome; Acetylcholine receptor; Internal medicine; Receptor; Biology; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000956717,0.0001620987,0.0005073895,0.0002323939,0.00004294397,0.00005461021,0.0001785534,0.00008152162,0.00008242174],"category_scores_gemma":[0.0008077126,0.00008431058,0.0002757091,0.0006437241,0.0001306615,0.0002253282,0.00002860004,0.0006061361,0.000004495515],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004576183,"about_ca_system_score_gemma":0.0002382175,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001135079,"about_ca_topic_score_gemma":0.0000261664,"domain_scores_codex":[0.997737,0.000479091,0.0008920334,0.0001804135,0.000530125,0.0001813346],"domain_scores_gemma":[0.9985398,0.0005200279,0.000451529,0.0002037596,0.0001821755,0.0001027004],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007357514,0.005692727,0.8278111,0.0009934885,0.002963871,0.01052354,0.006900643,0.0008613832,0.1050485,0.000728264,0.0003129379,0.03080607],"study_design_scores_gemma":[0.001799691,0.0009507915,0.9932604,0.0009794706,0.0004552279,0.000319684,0.00022641,0.001277595,0.0001944413,0.00005323195,0.0003831206,0.00009993576],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952185,0.001232012,0.00006095876,0.002840617,0.0002348845,0.0003480517,0.00003419253,0.00001405055,0.0000167502],"genre_scores_gemma":[0.9992132,0.0003009693,0.00001918373,0.0002096719,0.0001312409,0.00000754282,0.00004711059,0.0000322348,0.00003887485],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1654493,"threshold_uncertainty_score":0.3438086,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02218646835087337,"score_gpt":0.2987503949117502,"score_spread":0.2765639265608768,"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."}}