{"id":"W4211067672","doi":"10.1002/mdc3.13426","title":"<i>PRKRAP1</i> Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to <i>PRKRA</i> Gene Disease‐Causing Variants (<scp>DYT‐</scp><i>PRKRA</i>)","year":2022,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"","keywords":"Dystonia; Pseudogene; Medicine; Disease; Age of onset; Pediatrics; Genetics; Psychology; Gene; Psychiatry; Internal medicine; 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":[0.0002179403,0.0017565,0.0007570866,0.00118895,0.001067343,0.000581781,0.0009126611,0.002646093,0.003008187],"category_scores_gemma":[0.001079668,0.0005704687,0.0007001931,0.0006673936,0.00107402,0.0006809098,0.0005859656,0.001516126,0.0009467947],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006577831,"about_ca_system_score_gemma":0.0004698125,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002699929,"about_ca_topic_score_gemma":0.002705048,"domain_scores_codex":[0.9995654,0.00003797462,0.00005634347,0.0001478207,0.00006634858,0.0001259888],"domain_scores_gemma":[0.9993731,0.0002112259,0.0001770425,0.00002703215,0.00004319169,0.0001683526],"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":[0.00004279943,0.00001538581,0.0041048,0.00002901264,0.000004732892,0.9925008,0.00004658203,0.0000370979,0.002491884,0.0000809904,0.0002057782,0.0004400662],"study_design_scores_gemma":[0.00001089072,0.0000895362,0.009680517,0.00001337286,0.00001272858,0.9884601,0.0000401101,0.0002348592,0.001000241,0.0000663203,0.0003829319,0.000008442389],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9798189,0.003398272,0.00311573,0.001673341,0.0003329772,0.0002902537,0.0006758831,0.0001659223,0.0105287],"genre_scores_gemma":[0.9953388,0.0008715588,0.001201145,0.0006206117,0.0003583149,0.0000405937,0.0002486381,0.0000279444,0.001292354],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003008187,"threshold_uncertainty_score":0.01006341,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0591657471707241,"score_gpt":0.3466484266806166,"score_spread":0.2874826795098925,"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."}}