{"id":"W4400936573","doi":"10.1002/mgg3.2483","title":"Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay","year":2024,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"European Commission; Bulgarian National Science Fund; Medical University Sofia","keywords":"Cerebellar ataxia; Medicine; Consanguinity; Spasticity; Spastic; Ataxia; Hereditary spastic paraplegia; Pathology; Spinocerebellar ataxia; Disease; Pediatrics; Phenotype; Genetics; Biology; Gene; Physical medicine and rehabilitation","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000326242,0.0004383441,0.000604515,0.0001912865,0.0000851609,0.00004978202,0.0004441439,0.0001340938,0.0001343649],"category_scores_gemma":[0.001057977,0.0003454608,0.00009856188,0.0003983447,0.001671717,0.00004430548,0.0002607903,0.0003183654,0.00002057117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003491031,"about_ca_system_score_gemma":0.0002251344,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002762839,"about_ca_topic_score_gemma":0.00001124629,"domain_scores_codex":[0.9957988,0.0007422871,0.0009308895,0.001380016,0.0006722322,0.0004757386],"domain_scores_gemma":[0.9978149,0.0004789724,0.0002367776,0.0008543736,0.0001689008,0.0004460657],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001421732,0.0002527604,0.3127383,0.0002803932,0.00009887243,0.0003081641,0.0004436088,0.00100832,0.6770098,0.0003221097,0.000205232,0.007190317],"study_design_scores_gemma":[0.001781719,0.001280655,0.8582587,0.0002255786,0.0004199215,0.00002382366,0.00001839061,0.004662382,0.1316303,0.0007903085,0.0004750487,0.0004331349],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9860635,0.001461493,0.01030181,0.0002880054,0.0006025417,0.0009101286,0.00008784958,0.00006122799,0.0002234726],"genre_scores_gemma":[0.997678,0.0003040117,0.001135173,0.0004367172,0.0001920896,0.00003855826,0.00002123535,0.00008983062,0.0001043602],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5455204,"threshold_uncertainty_score":0.9998997,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01469708558276608,"score_gpt":0.2676957114792868,"score_spread":0.2529986258965207,"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."}}