{"id":"W4220841828","doi":"10.14802/jmd.21117","title":"Expanding the Clinical Spectrum of RFC1 Gene Mutations","year":2022,"lang":"en","type":"article","venue":"Journal of Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Hospital","funders":"","keywords":"Ataxia; Cerebellar ataxia; Medicine; Trinucleotide repeat expansion; Genetics; Mutation; Vestibular system; Gene; Sensory neuropathy; Cerebellum; Gene mutation; Biology; Allele; Audiology; Internal medicine","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":[0.0002672276,0.001372317,0.0006836366,0.001251109,0.0005047866,0.0004267034,0.0005434383,0.0009943651,0.001952524],"category_scores_gemma":[0.001267894,0.0001692114,0.0002325424,0.0005265639,0.0006535791,0.0004332272,0.0007367665,0.0005490541,0.0004071822],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000275408,"about_ca_system_score_gemma":0.0003846861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001045126,"about_ca_topic_score_gemma":0.001162149,"domain_scores_codex":[0.9996763,0.00003585162,0.0000384403,0.0000979664,0.00008292318,0.00006837696],"domain_scores_gemma":[0.9995845,0.0001186044,0.000059394,0.00002031976,0.00009721381,0.0001200023],"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":[0.0003604941,0.000177549,0.1420922,0.0001804613,0.00005166704,0.7312606,0.001052311,0.0009257859,0.07047239,0.001446428,0.003087246,0.0488929],"study_design_scores_gemma":[0.00005152704,0.0001827367,0.08892902,0.0001018804,0.00006437883,0.8978544,0.0003074491,0.0009607766,0.005744738,0.0008137265,0.004954955,0.00003447012],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9821332,0.002653023,0.001866729,0.0009391539,0.00004336191,0.00005961308,0.000259085,0.0001562664,0.01188961],"genre_scores_gemma":[0.9963236,0.001216169,0.00104077,0.0003533061,0.0001030455,0.00001468411,0.000188078,0.00002710943,0.0007333352],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001952524,"threshold_uncertainty_score":0.006531835,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04914576987630155,"score_gpt":0.3373969697583918,"score_spread":0.2882511998820902,"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."}}