{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00174876,0.0003019496,0.0006672172,0.0000570333,0.0002719538,0.00008101873,0.0003762705,0.0004711723,0.000006920589],"category_scores_gemma":[0.03381195,0.000292457,0.0002150837,0.00006505483,0.0008022309,0.00007041425,0.0004983387,0.0004906154,0.000004732759],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000062024,"about_ca_system_score_gemma":0.0001325977,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005378943,"about_ca_topic_score_gemma":0.0003230369,"domain_scores_codex":[0.9964174,0.0003128056,0.001581429,0.00105663,0.0003140687,0.0003176834],"domain_scores_gemma":[0.9933485,0.002230425,0.002765816,0.001138223,0.0002854172,0.0002315847],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005864952,0.001854233,0.8273388,0.0001208258,0.0007503524,0.00006689758,0.0002870917,0.00002081286,0.1334326,0.0002979014,0.02546751,0.009776428],"study_design_scores_gemma":[0.006143643,0.001174075,0.826348,0.00009117191,0.0005813714,0.00007194993,0.0007863613,0.0002289804,0.01901822,0.001257162,0.1440909,0.0002081665],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9781559,0.002011444,0.01220835,0.002200989,0.001415784,0.0006787926,0.0001801184,0.00001950794,0.00312914],"genre_scores_gemma":[0.978458,0.006156149,0.009060009,0.003516269,0.0009413221,0.00006467995,0.0004324038,0.0000615735,0.001309635],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1186234,"threshold_uncertainty_score":0.9999527,"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."}}