{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005040157,0.00008465294,0.0001593318,0.0001006611,0.0002693058,0.00001856565,0.000413315,0.000009179565,0.0004581105],"category_scores_gemma":[0.0005243043,0.00006244358,0.0002207911,0.0002495826,0.0001325132,0.00006244343,0.0001382811,0.0002238976,0.000001854376],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003118214,"about_ca_system_score_gemma":0.000140286,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004549771,"about_ca_topic_score_gemma":0.000005040113,"domain_scores_codex":[0.9980235,0.0004571073,0.0006076766,0.0001442853,0.000615312,0.0001521923],"domain_scores_gemma":[0.9988009,0.0003510988,0.0005640732,0.0001770876,0.00002966537,0.00007714049],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002735234,0.002140957,0.06585275,0.0000158017,0.00009552832,0.00003848716,0.001386359,0.06993513,0.8455746,0.002120491,0.007844991,0.004721373],"study_design_scores_gemma":[0.002268274,0.001776209,0.06729832,0.00001029479,0.0001149226,0.00001473783,0.00366335,0.0004292076,0.8937444,0.02789132,0.002572269,0.0002166697],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939433,0.0001267175,0.0006072263,0.004134083,0.0006927977,0.0001700709,0.00002474828,0.000004410091,0.0002966183],"genre_scores_gemma":[0.9968468,0.0001872066,0.00009892041,0.002668942,0.00006809246,0.00001022265,6.68328e-7,0.00001141216,0.0001077113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06950592,"threshold_uncertainty_score":0.5015989,"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."}}