{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002264428,0.0006456496,0.0003680266,0.001307826,0.0006939717,0.0004839911,0.0002588288,0.000345091,0.001830928],"category_scores_gemma":[0.0007960837,0.00017049,0.000195246,0.0009065744,0.0005971839,0.0001457661,0.0005182711,0.0001920139,0.0001701653],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006658397,"about_ca_system_score_gemma":0.0003404725,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01614773,"about_ca_topic_score_gemma":0.0157801,"domain_scores_codex":[0.9997678,0.00003032595,0.00002778273,0.00008458297,0.0000342233,0.00005523542],"domain_scores_gemma":[0.9997901,0.00005144112,0.00005059803,0.00001388963,0.00003871092,0.00005512935],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006162725,0.00005427792,0.9642088,0.00004205572,0.0001076396,0.01035618,0.001813146,0.0004920576,0.008161533,0.0002206607,0.0003873754,0.01354007],"study_design_scores_gemma":[0.00001665332,0.000119188,0.986684,0.00002987826,0.00005452432,0.01067181,0.0008812511,0.0003185012,0.0005060252,0.00008956441,0.0006145454,0.00001405966],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994288,0.0001314638,0.00005366633,0.0000163673,0.000004114605,0.000003725555,0.00006806378,0.000003518394,0.0002900535],"genre_scores_gemma":[0.9996483,0.0000694867,0.00005575087,0.0000124791,0.000002712393,0.000002774966,0.0001277604,0.000002046834,0.00007867923],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01614773,"threshold_uncertainty_score":0.03210747,"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."}}