{"id":"W4385477459","doi":"10.1002/mds.29559","title":"As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort","year":2023,"lang":"en","type":"letter","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Else Kröner-Fresenius-Stiftung; Deutsche Forschungsgemeinschaft; Génome Québec","keywords":"Spinocerebellar ataxia; Trinucleotide repeat expansion; Ataxia; Cohort; Population; Genetics; Biology; Medicine; Internal medicine; Neuroscience; Gene; Allele","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":[0.0002269557,0.0005463809,0.0004738997,0.001125037,0.0006716205,0.0007151221,0.000310926,0.0004107218,0.001787111],"category_scores_gemma":[0.0007399166,0.0003210586,0.0002772012,0.0007656705,0.0004078886,0.000271603,0.0005964081,0.0002260317,0.0005057549],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000273599,"about_ca_system_score_gemma":0.0003014096,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005557934,"about_ca_topic_score_gemma":0.00718777,"domain_scores_codex":[0.9995956,0.00004875319,0.00003078887,0.0001963829,0.00007085557,0.00005761874],"domain_scores_gemma":[0.9996923,0.00002947575,0.00006906943,0.00004741069,0.00005167869,0.0001099633],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002597148,0.00005583732,0.9798448,0.00003190453,0.000148847,0.0030472,0.0005559465,0.00007843872,0.008814538,0.0001340462,0.001039662,0.005989053],"study_design_scores_gemma":[0.00002903906,0.0001119773,0.992559,0.00001042609,0.00008898723,0.004751609,0.0002900561,0.0002014158,0.0004132775,0.00004780099,0.001484816,0.00001176733],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987941,0.0001812592,0.000133462,0.00002740153,0.000004970871,0.00001915381,0.0004540119,0.000007118754,0.0003784692],"genre_scores_gemma":[0.9984924,0.0001895138,0.0001670042,0.00004279535,0.0000105059,0.00001919053,0.0008543127,0.0000071515,0.0002172351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005557934,"threshold_uncertainty_score":0.01105112,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01421766742326664,"score_gpt":0.2661061010271361,"score_spread":0.2518884336038695,"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."}}