{"id":"W3037693427","doi":"10.4103/jpn.jpn_145_18","title":"Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population","year":2020,"lang":"en","type":"article","venue":"Journal of Pediatric Neurosciences","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Ataxia; Pediatrics; Hereditary spastic paraplegia; Leukodystrophy; Consanguineous Marriage; Population; Consanguinity; Joubert syndrome; Genetics; Pathology; Psychiatry; Disease; Biology","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":[0.0001765728,0.0006160596,0.0002276579,0.001210171,0.0005379887,0.0004240573,0.0002563252,0.0004482271,0.002346287],"category_scores_gemma":[0.0007720859,0.0001819263,0.0002704763,0.0008272388,0.0003777865,0.0002469436,0.0003278686,0.0002101851,0.0003032734],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003090942,"about_ca_system_score_gemma":0.0003426237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00646696,"about_ca_topic_score_gemma":0.003080281,"domain_scores_codex":[0.9997445,0.00004223993,0.00003407484,0.00007647154,0.00004209347,0.000060612],"domain_scores_gemma":[0.999724,0.00003197607,0.000133368,0.000008422127,0.00004251521,0.00005974442],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001690979,0.00005841528,0.9789721,0.00003024139,0.0000488512,0.009470274,0.0003923549,0.0001466927,0.003581538,0.0001431499,0.0006985956,0.006288691],"study_design_scores_gemma":[0.00001435074,0.0001225765,0.962268,0.00002302247,0.00004345304,0.03545211,0.00066209,0.000182821,0.0002174252,0.00008382426,0.0009171334,0.00001325084],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988983,0.0003651156,0.00006137053,0.00004235433,0.000004677285,0.000005763461,0.0001213569,0.000005200699,0.0004958368],"genre_scores_gemma":[0.9993615,0.0002251676,0.00007703782,0.00002561603,0.000009875973,0.000004728242,0.000175664,0.000002388359,0.0001180922],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00646696,"threshold_uncertainty_score":0.01285863,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04932909989737643,"score_gpt":0.3304371220635827,"score_spread":0.2811080221662063,"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."}}