{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002539985,0.0005411302,0.0003566415,0.000709623,0.0002301132,0.0002569687,0.0002078742,0.0003403169,0.001173703],"category_scores_gemma":[0.00103294,0.0001288111,0.0001845954,0.0003513761,0.0005010348,0.0001242555,0.0004351274,0.0002372124,0.0001982742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002146236,"about_ca_system_score_gemma":0.0001666792,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007523474,"about_ca_topic_score_gemma":0.0009879514,"domain_scores_codex":[0.9997684,0.00004686776,0.00002850709,0.00007331109,0.00003911167,0.00004381665],"domain_scores_gemma":[0.9994229,0.0001588813,0.0001866829,0.00002814649,0.00004790565,0.0001555078],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005993683,0.00008838496,0.948358,0.0000439359,0.00006574146,0.01306173,0.0003885885,0.0002185749,0.03207412,0.00004843788,0.0001466636,0.004906407],"study_design_scores_gemma":[0.00002455176,0.0002538249,0.9717507,0.000005852664,0.00002080518,0.02668359,0.0001280188,0.0001275174,0.0008545079,0.00002418627,0.0001214451,0.000005003252],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996833,0.00005645662,0.00004440477,0.000006910804,0.000001169106,0.000004245657,0.00004189463,0.000001971009,0.0001597446],"genre_scores_gemma":[0.9997093,0.00003002888,0.00008377373,0.00000923166,0.000002847534,0.000004219546,0.0001187896,0.000001576057,0.00004017695],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001173703,"threshold_uncertainty_score":0.003926456,"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."}}