{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009305386,0.0002946789,0.0006898968,0.0003998025,0.00007694564,0.00001732823,0.000697043,0.0001085351,0.0002233438],"category_scores_gemma":[0.002953424,0.0002241046,0.0001944058,0.001705902,0.0005704978,0.000044611,0.0002609387,0.0001836407,0.00001003608],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000424327,"about_ca_system_score_gemma":0.0006407393,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002774784,"about_ca_topic_score_gemma":0.00202907,"domain_scores_codex":[0.997135,0.0002995157,0.0007248981,0.0007018177,0.0008349514,0.0003037794],"domain_scores_gemma":[0.9973035,0.001255346,0.0003944322,0.0006343888,0.0001779645,0.0002344115],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002803942,0.000293213,0.9324194,0.0000607398,0.0003008037,0.00001123759,0.0001764512,0.01922991,0.04595654,0.00006287154,0.00002961412,0.001178826],"study_design_scores_gemma":[0.001718016,0.0001345221,0.8931386,0.00007419327,0.0009324384,4.317663e-7,0.00003193213,0.04939215,0.05414627,0.0002296175,0.000009947986,0.0001918679],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877592,0.000220665,0.01075412,0.00002881605,0.0002257583,0.0003471158,0.0004642654,0.00002930666,0.0001707273],"genre_scores_gemma":[0.9983406,0.000118051,0.00110378,0.0002287559,0.00003968926,0.00002015495,0.00006309182,0.00002415943,0.00006169777],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03928079,"threshold_uncertainty_score":0.9138721,"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."}}