{"id":"W2222550487","doi":"10.1212/wnl.80.7_supplement.p05.041","title":"Exome Sequencing Reveals PMM2-CDG Gene Mutations in French-Canadian Siblings with Recessive Cerebellar Ataxia, Hand Tremor and Cognitive Impairment (P05.041)","year":2013,"lang":"en","type":"article","venue":"Neurology","topic":"Hermeneutics and Narrative Identity","field":"Arts and Humanities","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Université Laval","funders":"","keywords":"Ataxia; Exome sequencing; Cerebellar ataxia; Cognitive impairment; Genetics; Medicine; Mutation; Neuroscience; Gene; Cognition; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002404695,0.001435379,0.0003747129,0.001659262,0.003758928,0.0009213687,0.0009528247,0.002619624,0.004437267],"category_scores_gemma":[0.00106083,0.0002675053,0.0004491322,0.001368453,0.001211526,0.0003002346,0.0007039325,0.0009669528,0.0005103233],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004207149,"about_ca_system_score_gemma":0.004249529,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.4905789,"about_ca_topic_score_gemma":0.578852,"domain_scores_codex":[0.9995875,0.00002217748,0.00003138413,0.0001062121,0.000151767,0.0001010404],"domain_scores_gemma":[0.9996464,0.00009623805,0.00004193937,0.000009105003,0.0000817917,0.0001245065],"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":[0.000243937,0.0001379259,0.05701261,0.00009624061,0.00005952668,0.8802829,0.005092165,0.001213929,0.03196701,0.003486768,0.00601347,0.01439344],"study_design_scores_gemma":[0.00008989291,0.0001579735,0.2464637,0.0001574585,0.0001785296,0.7160686,0.003789908,0.002702723,0.01168746,0.001389005,0.01720366,0.0001110965],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784801,0.000598883,0.0009514581,0.003228521,0.000109264,0.00007112941,0.001651219,0.00008062339,0.01482871],"genre_scores_gemma":[0.9936337,0.0002835867,0.001347544,0.0006828815,0.00003347559,0.0000141968,0.0002979998,0.00002636342,0.003680112],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5094211,"threshold_uncertainty_score":0.9754468,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02220083680628617,"score_gpt":0.2226215572306962,"score_spread":0.20042072042441,"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."}}