{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":["insufficient_payload"],"category_scores_codex":[0.000254428,0.00039581,0.0004812849,0.0001863721,0.0001969978,0.00003002189,0.0009060637,0.0001548882,0.00134198],"category_scores_gemma":[0.001272638,0.0003528204,0.0001006493,0.0006139082,0.001051684,0.00004334358,0.0003340627,0.0003473362,0.001289805],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004110612,"about_ca_system_score_gemma":0.00008369197,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007239227,"about_ca_topic_score_gemma":0.000006423106,"domain_scores_codex":[0.9964586,0.0003688531,0.0006257554,0.001071724,0.0006415876,0.000833448],"domain_scores_gemma":[0.9981717,0.0002465311,0.0001785301,0.0009054459,0.00008304689,0.0004147127],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0000645905,0.00009865656,0.0002592564,0.0000232324,0.00002488529,0.002537702,0.0002435464,0.0001758611,0.9919935,0.0004073146,0.003460643,0.0007107811],"study_design_scores_gemma":[0.01351698,0.01591358,0.08314814,0.0002922629,0.0007498643,0.01332792,0.0004117808,0.05668285,0.5509036,0.05307443,0.2082522,0.003726484],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844741,0.0006726513,0.00335763,0.003082185,0.001073129,0.0007971858,0.00001987361,0.000200421,0.006322867],"genre_scores_gemma":[0.9908624,0.00008886318,0.0003863204,0.007787762,0.0004010681,0.00003851012,0.00002771054,0.00008056041,0.0003268395],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.44109,"threshold_uncertainty_score":0.9998924,"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."}}