{"id":"W4410567307","doi":"10.1002/jdn.70023","title":"A Novel Homozygous Frameshift Variant of <i>SACS</i> Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS)","year":2025,"lang":"en","type":"article","venue":"International Journal of Developmental Neuroscience","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Frameshift mutation; Ataxia; Genetics; Turkish; Gene; Biology; Medicine; Mutation; 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":[0.0001148875,0.001139181,0.000480909,0.000802657,0.0007955414,0.000320953,0.0006259009,0.00131951,0.00219311],"category_scores_gemma":[0.0007385352,0.0003176932,0.0005263479,0.0004014778,0.0008810809,0.0003292701,0.0005144807,0.0006072561,0.0004022954],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004453819,"about_ca_system_score_gemma":0.0004093358,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00395711,"about_ca_topic_score_gemma":0.004434074,"domain_scores_codex":[0.9997732,0.00001516944,0.00002881052,0.00008714888,0.00004347538,0.00005220036],"domain_scores_gemma":[0.9995558,0.0001025645,0.0001439913,0.00002162404,0.0000487006,0.0001273008],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009071758,0.00004834558,0.01744319,0.00004549554,0.00003066945,0.9328486,0.0006563556,0.0001096752,0.04501749,0.0003305635,0.0004052422,0.002973627],"study_design_scores_gemma":[0.00002366914,0.0001912888,0.04287227,0.00001515978,0.00005179972,0.9454097,0.0003283023,0.0003587941,0.009318377,0.0001682383,0.001228485,0.00003395224],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971904,0.0002656264,0.0009354884,0.0002178103,0.0000604383,0.00001905114,0.0001448704,0.00005838149,0.001108014],"genre_scores_gemma":[0.9984745,0.00009276499,0.0006724486,0.00009824827,0.00002251899,0.000006984178,0.00006180122,0.00001183519,0.0005587779],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00395711,"threshold_uncertainty_score":0.007868171,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0107045144061978,"score_gpt":0.2512976704682572,"score_spread":0.2405931560620594,"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."}}