{"id":"W2899047922","doi":"10.1002/mgg3.492","title":"Triple A syndrome presenting as complicated hereditary spastic paraplegia","year":2018,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke; Montreal Neurological Institute and Hospital; University of Toronto; SickKids Foundation; Hospital for Sick Children; McGill University","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Medicine; Hereditary spastic paraplegia; Exome sequencing; Spasticity; Pediatrics; Nonsense mutation; Paraplegia; Achalasia; Spastic; Mutation; Pathology; Bioinformatics; Internal medicine; Missense mutation; Genetics; Physical therapy; Spinal cord","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":[0.0001104031,0.0009976076,0.0004297921,0.0009641958,0.0007370944,0.0003996018,0.0002441041,0.0008663032,0.002193035],"category_scores_gemma":[0.001112681,0.0002418209,0.000268596,0.0006188148,0.000503479,0.0002799514,0.0005977403,0.0004648133,0.0004215763],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000275223,"about_ca_system_score_gemma":0.0003539275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001455182,"about_ca_topic_score_gemma":0.00187662,"domain_scores_codex":[0.9998544,0.00001508271,0.00001994693,0.00003984951,0.00003523384,0.00003545925],"domain_scores_gemma":[0.9993173,0.0001962104,0.0001833832,0.00002654131,0.00005300514,0.0002236287],"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":[0.0001699902,0.00007244802,0.08864957,0.00007054953,0.00005872661,0.8836213,0.0004945084,0.0002450777,0.02070964,0.0003339315,0.0007724597,0.004801651],"study_design_scores_gemma":[0.00002376807,0.0001336114,0.04625684,0.00002345434,0.00003707615,0.949701,0.0001607514,0.0004262905,0.002317501,0.0003394702,0.0005647955,0.00001543914],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957047,0.000337143,0.0006104661,0.0001018623,0.0000162061,0.00002286504,0.0001049353,0.00003292999,0.003068752],"genre_scores_gemma":[0.9992337,0.0001405197,0.0002823643,0.00005794227,0.00001839123,0.000007074388,0.0000695422,0.000005977417,0.0001844933],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002193035,"threshold_uncertainty_score":0.007336438,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03581023620230196,"score_gpt":0.282812790738024,"score_spread":0.2470025545357221,"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."}}