{"id":"W3130853340","doi":"10.1016/j.ejpn.2021.02.005","title":"Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype","year":2021,"lang":"en","type":"article","venue":"European Journal of Paediatric Neurology","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"","keywords":"Ophthalmoparesis; Medicine; Hypotonia; Ptosis; Weakness; Congenital myasthenic syndrome; Pediatrics; Muscle biopsy; Proximal muscle weakness; Repetitive nerve stimulation; Frameshift mutation; Palpebral fissure; Muscle weakness; Surgery; Internal medicine; Biopsy; Myasthenia gravis; Mutation; Genetics; Biology","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":[0.0001881545,0.002596784,0.0007146373,0.001054897,0.0004315463,0.0006285626,0.000764449,0.001841277,0.003713708],"category_scores_gemma":[0.002015212,0.000399626,0.0004436915,0.0006984586,0.001270284,0.0003942342,0.001151698,0.0009262066,0.0006593283],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003051438,"about_ca_system_score_gemma":0.0004417177,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001267469,"about_ca_topic_score_gemma":0.001096547,"domain_scores_codex":[0.9995214,0.00006849754,0.00006629652,0.0001308731,0.000102868,0.0001102375],"domain_scores_gemma":[0.9987191,0.0005136502,0.0003740161,0.00005002477,0.00006952687,0.0002737459],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004045218,0.00004036845,0.02128204,0.0001244359,0.0000719767,0.8952864,0.00050911,0.000464728,0.07523041,0.001098079,0.0008843344,0.004603661],"study_design_scores_gemma":[0.0000730083,0.000207436,0.07427129,0.00003902632,0.00008852053,0.9145409,0.0002071987,0.000622211,0.007731232,0.0004811323,0.001702794,0.00003525314],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9874917,0.001335573,0.001380789,0.0005634671,0.00008546011,0.00003435452,0.0006742323,0.0001074887,0.008326944],"genre_scores_gemma":[0.9978089,0.0002257333,0.0007077294,0.00007442566,0.00007465698,0.00000986906,0.0002268691,0.00002907125,0.0008427261],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003713708,"threshold_uncertainty_score":0.01242357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02807337266777082,"score_gpt":0.2764938914943998,"score_spread":0.248420518826629,"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."}}