{"id":"W3214997848","doi":"10.1002/ana.26275","title":"Heterozygous De Novo <scp><i>KPNA3</i></scp> Mutations Cause Complex Hereditary Spastic Paraplegia","year":2021,"lang":"en","type":"letter","venue":"Annals of Neurology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; Children's Hospital of Eastern Ontario; McGill University; Hospital for Sick Children","funders":"Canadian Institutes of Health Research","keywords":"Sick child; Medicine; Annals; Hereditary spastic paraplegia; University hospital; Gerontology; Family medicine; Pediatrics; Library science; History; Biology","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":[0.0005221442,0.001437969,0.001140753,0.001004262,0.002476821,0.001521087,0.001339803,0.01878421,0.005915285],"category_scores_gemma":[0.005483153,0.000501569,0.001176093,0.0008372111,0.001525775,0.001237401,0.0006871033,0.007460629,0.003298875],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002667279,"about_ca_system_score_gemma":0.001369298,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006034895,"about_ca_topic_score_gemma":0.006062496,"domain_scores_codex":[0.9994819,0.00007661027,0.00007340298,0.00008575754,0.0001242084,0.0001582646],"domain_scores_gemma":[0.9980388,0.0009225116,0.0002123424,0.00009104594,0.000314405,0.0004208284],"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":[0.0001438888,0.00007782364,0.005205192,0.00008276291,0.000052752,0.8235619,0.0001636346,0.0002601015,0.001249164,0.002159941,0.1608994,0.00614346],"study_design_scores_gemma":[0.0003362103,0.0001872247,0.01190027,0.0002855343,0.0001836709,0.8601804,0.0004452839,0.003428144,0.002145661,0.009288157,0.1115262,0.00009319909],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.093701,0.005476286,0.00168758,0.7307738,0.0403353,0.0001864207,0.001001745,0.0004623327,0.1263756],"genre_scores_gemma":[0.55029,0.005420285,0.002624518,0.285174,0.09930611,0.0001446519,0.0005335997,0.0003012911,0.05620552],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01878421,"threshold_uncertainty_score":0.01978862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1746705584682186,"score_gpt":0.3308486661186753,"score_spread":0.1561781076504567,"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."}}