{"id":"W4389441476","doi":"10.1212/wnl.92.15_supplement.p1.8-014","title":"Autosomal Recessive Spastic Ataxia of Charlovoix-Saguenay. A new pathogenic mutation. (P1.8-014)","year":2019,"lang":"en","type":"article","venue":"Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Ataxia; Mutation; Spastic; Medicine; Genetics; Biology; Psychiatry; Gene","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":[0.0001796836,0.001607472,0.0004008474,0.0008936912,0.0006271991,0.0004525902,0.0004610072,0.001484985,0.001953978],"category_scores_gemma":[0.0005335929,0.0002155804,0.000435534,0.0004919171,0.0008469655,0.0002481941,0.000557858,0.0004480966,0.0004180299],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007809399,"about_ca_system_score_gemma":0.0004285962,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002792878,"about_ca_topic_score_gemma":0.003201439,"domain_scores_codex":[0.9998294,0.00003063519,0.00002358426,0.00004176738,0.00003623283,0.00003833407],"domain_scores_gemma":[0.999755,0.00006286581,0.00007048168,0.000009865399,0.00002626361,0.00007559099],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006160659,0.0000867116,0.02927707,0.0002278954,0.0001319525,0.8842396,0.0003031832,0.0009040141,0.06867774,0.003152109,0.001260016,0.01112372],"study_design_scores_gemma":[0.0002250524,0.0004384501,0.04043601,0.0001041616,0.0001774991,0.906034,0.000289097,0.002902607,0.03430144,0.00132738,0.01369553,0.00006880027],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989282,0.002906164,0.002148438,0.0008271867,0.0002288059,0.00003886146,0.000303236,0.0001677908,0.004097477],"genre_scores_gemma":[0.9962808,0.0002556937,0.001245869,0.00008358275,0.00005658804,0.00001460731,0.00009568281,0.00001050703,0.00195668],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002792878,"threshold_uncertainty_score":0.006536722,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008762265890018264,"score_gpt":0.2273582937927443,"score_spread":0.218596027902726,"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."}}