{"id":"W4410057404","doi":"10.1186/s12920-025-02151-2","title":"Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay","year":2025,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Xinxiang Medical University; Natural Science Foundation of Henan Province; Natural Science Foundation of Hainan Province; National Natural Science Foundation of China","keywords":"Human genetics; Genetics; Ataxia; Biology; Medicine; Gene; Neuroscience","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":[0.0004843779,0.001667327,0.0009649273,0.001804874,0.002371193,0.0007340564,0.0007486285,0.001120288,0.001822951],"category_scores_gemma":[0.001979959,0.0005052711,0.001018263,0.001462712,0.001053097,0.0002687792,0.001149257,0.000456853,0.000260742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001287181,"about_ca_system_score_gemma":0.001061126,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01957484,"about_ca_topic_score_gemma":0.0150542,"domain_scores_codex":[0.9993302,0.00006852546,0.0001200752,0.0002087332,0.0001254349,0.0001471239],"domain_scores_gemma":[0.9992337,0.0002369203,0.000136061,0.00005632016,0.0001218285,0.0002151544],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001071595,0.0004470865,0.5387067,0.0001649305,0.0002922054,0.39281,0.01464149,0.0002497556,0.03788663,0.0004497663,0.0005328226,0.01274695],"study_design_scores_gemma":[0.0002946485,0.0007703134,0.7497512,0.00006143028,0.0003496789,0.2368894,0.003213227,0.0006650466,0.005026565,0.0002819029,0.00257783,0.0001188585],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993196,0.0000704223,0.0001135785,0.00003688716,0.000006088578,0.00003979759,0.00007221383,0.000005314849,0.0003362229],"genre_scores_gemma":[0.9988604,0.00009344033,0.0002627964,0.00008849933,0.0000138935,0.00003881385,0.0002608735,0.00000688716,0.0003743329],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01957484,"threshold_uncertainty_score":0.03892177,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01380128616047935,"score_gpt":0.2569442389360101,"score_spread":0.2431429527755307,"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."}}