{"id":"W3130868973","doi":"10.1002/mds.28518","title":"The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice","year":2021,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Proband; Genetics; Spinocerebellar ataxia; Ataxia; Exome sequencing; Frataxin; Sanger sequencing; Medicine; Genetic heterogeneity; Population; Genetic epidemiology; Biology; Phenotype; Mutation; Gene","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":[0.0006539788,0.0002472397,0.0003090786,0.0009800773,0.0003950525,0.0007017737,0.0003402522,0.0004088082,0.002672317],"category_scores_gemma":[0.002623684,0.00009567768,0.0001132918,0.001552789,0.0004268996,0.0005517727,0.0004808002,0.0002189668,0.0001735149],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006435016,"about_ca_system_score_gemma":0.0007813646,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005366729,"about_ca_topic_score_gemma":0.005319802,"domain_scores_codex":[0.9994866,0.0001814827,0.00004624733,0.0001449113,0.00007936247,0.00006140896],"domain_scores_gemma":[0.9990203,0.0002742349,0.0003735689,0.00003493265,0.0001568014,0.0001400966],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001892484,0.0000612475,0.920845,0.0002071691,0.00007013025,0.003601643,0.0006333701,0.0004680805,0.0008932223,0.0008402762,0.003263813,0.06892682],"study_design_scores_gemma":[0.000009373462,0.00005390681,0.9886147,0.0001509437,0.0000377788,0.006133169,0.001365036,0.0004427645,0.00007154662,0.001093935,0.002011181,0.00001571239],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9812429,0.01118544,0.0004998659,0.00327319,0.00004555584,0.00001804213,0.0004801904,0.00003097875,0.003224048],"genre_scores_gemma":[0.9962739,0.0026706,0.000492451,0.0001588531,0.00003558026,0.000007664948,0.0002168399,0.000004102293,0.0001400359],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005366729,"threshold_uncertainty_score":0.01067102,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04403551437111782,"score_gpt":0.3376588965722942,"score_spread":0.2936233822011764,"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."}}