{"id":"W2970358505","doi":"10.2478/bjmg-2019-0010","title":"A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family","year":2019,"lang":"en","type":"article","venue":"Balkan Journal of Medical Genetics","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Concordia University","keywords":"Congenital myasthenic syndrome; Proband; Missense mutation; Genetics; Medicine; Mutation; Medical genetics; Acetylcholine receptor; Genetic testing; Compound heterozygosity; Ptosis; Gene; Bioinformatics; Biology; Receptor; Pharmacology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002132093,0.001050741,0.0004429889,0.001048239,0.0009262052,0.0003558877,0.0005646252,0.001546429,0.002312009],"category_scores_gemma":[0.0008010406,0.0003032647,0.000859452,0.0006326663,0.0007670632,0.0002635949,0.0003533429,0.0009023207,0.0003425267],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003884364,"about_ca_system_score_gemma":0.0004382214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002605239,"about_ca_topic_score_gemma":0.002380044,"domain_scores_codex":[0.9997179,0.00004323,0.00003368724,0.0001010031,0.00005085133,0.0000532514],"domain_scores_gemma":[0.9994714,0.0001954713,0.0001247421,0.00002237226,0.00004181949,0.0001441883],"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":[0.0002068435,0.0001472639,0.0344284,0.0000568965,0.00005332712,0.9287096,0.0006665821,0.0002701357,0.03086535,0.0003821809,0.0004133752,0.003800175],"study_design_scores_gemma":[0.00008768492,0.0004888625,0.08750503,0.00004264656,0.0001228386,0.9002623,0.000426214,0.001085229,0.008265482,0.0002485587,0.001422805,0.00004247155],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974409,0.0003207865,0.0007972547,0.0003515836,0.00007358209,0.0000311645,0.0001598451,0.00003323441,0.0007916862],"genre_scores_gemma":[0.9989146,0.0001029902,0.0004558765,0.0001244345,0.00004704258,0.000006746637,0.0000501275,0.000007636351,0.000290575],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002605239,"threshold_uncertainty_score":0.007734418,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02500257396357029,"score_gpt":0.2868983532033426,"score_spread":0.2618957792397723,"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."}}