{"id":"W3000368710","doi":"10.1002/mgg3.1052","title":"Clinical and genetic analysis of <i>ATP13A2</i> in hereditary spastic paraplegia expands the phenotype","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research","keywords":"Hereditary spastic paraplegia; Spasticity; Medicine; Exome sequencing; Spastic; Phenotype; Mutation; Extrapyramidal symptoms; Paraplegia; Genetics; Bioinformatics; Psychiatry; Gene; Biology; Physical medicine and rehabilitation; Spinal cord; Schizophrenia (object-oriented programming)","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0002342884,0.001036818,0.0002940267,0.0008538789,0.0005639978,0.0003322395,0.0003210791,0.0005466273,0.004031557],"category_scores_gemma":[0.0007761269,0.0001224748,0.0002855776,0.0006828776,0.0004568408,0.0001139049,0.0003626561,0.0002965356,0.0005674349],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004560958,"about_ca_system_score_gemma":0.0007188322,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01733899,"about_ca_topic_score_gemma":0.02280443,"domain_scores_codex":[0.9997944,0.0000240087,0.00002411269,0.00005908307,0.00005274055,0.00004560181],"domain_scores_gemma":[0.9996486,0.00008402395,0.00007220882,0.00001632307,0.00008499438,0.00009385186],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00128499,0.0003337773,0.5290291,0.0003004977,0.0002408914,0.2580606,0.0008658643,0.0007366493,0.1680385,0.0005363276,0.004066919,0.03650575],"study_design_scores_gemma":[0.00007801237,0.0003070824,0.7821143,0.0001122416,0.0002713885,0.1984743,0.0003353847,0.001067906,0.01162543,0.0002867003,0.005301574,0.00002563543],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916096,0.000476047,0.0007155099,0.0001661047,0.00001773874,0.00005970218,0.0006757402,0.00004682227,0.006232806],"genre_scores_gemma":[0.9978835,0.0002061769,0.0005885123,0.0001604657,0.00002204318,0.000009533022,0.0005632121,0.00001793011,0.0005485732],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01733899,"threshold_uncertainty_score":0.03447616,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04558237696952491,"score_gpt":0.2969445689081327,"score_spread":0.2513621919386078,"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."}}