{"id":"W2726697722","doi":"10.1002/mdc3.12520","title":"Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (<scp>ARSACS</scp>)–First Report of Clinical and Imaging Features from India, and a Novel <i><scp>SACS</scp></i> Gene Duplication","year":2017,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Gene duplication; Medicine; Gene; Neuroscience; Genetics; 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":[0.00006947902,0.0009975429,0.0004656658,0.001824312,0.0006371778,0.000528966,0.000975812,0.00277349,0.02398502],"category_scores_gemma":[0.0005194197,0.0003218508,0.0006244467,0.0008557155,0.0006202048,0.0005694089,0.0005361341,0.001056036,0.002844527],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000730106,"about_ca_system_score_gemma":0.0006732743,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01394632,"about_ca_topic_score_gemma":0.01536648,"domain_scores_codex":[0.9998966,0.000005157834,0.000008985347,0.00003079738,0.00002618515,0.00003225095],"domain_scores_gemma":[0.9997382,0.00006523218,0.00004589495,0.00001283136,0.00003144042,0.0001063699],"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":[0.0002466307,0.00007162388,0.008170049,0.000211088,0.00003862898,0.9191412,0.0001950706,0.0002737388,0.0185406,0.0009014986,0.03498751,0.01722248],"study_design_scores_gemma":[0.0001188332,0.0001438179,0.05271527,0.0002255433,0.0000905183,0.8873588,0.0003135928,0.0006317337,0.00731946,0.001040815,0.04996588,0.00007566124],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7119229,0.01690343,0.008096253,0.02791347,0.005117753,0.0006140044,0.03038349,0.002810367,0.1962383],"genre_scores_gemma":[0.9267042,0.007479614,0.006821033,0.003247689,0.001653558,0.0001272326,0.006527921,0.0002167421,0.04722201],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02398502,"threshold_uncertainty_score":0.08023793,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02380541975765341,"score_gpt":0.3389901596030191,"score_spread":0.3151847398453657,"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."}}