{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002639505,0.0001045696,0.0001561135,0.0002047575,0.00003315984,0.00002594511,0.0007000493,0.00005839022,0.000007411626],"category_scores_gemma":[0.0003303415,0.00007286898,0.00005673811,0.0003048342,0.0001948764,0.00002000293,0.0001089652,0.0001588976,4.883777e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001969865,"about_ca_system_score_gemma":0.0003854511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001757965,"about_ca_topic_score_gemma":0.00003284601,"domain_scores_codex":[0.9987906,0.00005225671,0.0004481562,0.0001908098,0.0003950064,0.0001231566],"domain_scores_gemma":[0.9991457,0.00004978522,0.0003958487,0.00009567128,0.0002806949,0.00003227265],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003457465,0.000173632,0.006356593,0.00000710626,0.00002265508,0.0001123511,0.0002029457,0.0002356759,0.9917828,0.0001284675,0.000254445,0.0003775122],"study_design_scores_gemma":[0.002537027,0.0007928829,0.07297368,0.0002424918,0.00002619142,0.004873969,0.0003321445,0.0001309235,0.9116149,0.0001193315,0.006155517,0.0002009292],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9725889,0.00009224013,0.02500592,0.0005672345,0.00118342,0.0001018405,0.00003067675,0.000001515716,0.0004282559],"genre_scores_gemma":[0.9943478,0.00007591061,0.004049794,0.001274385,0.00006881456,0.000003484659,0.000006010825,0.000004958438,0.000168916],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08016795,"threshold_uncertainty_score":0.2971511,"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."}}