{"id":"W3022113790","doi":"10.4103/aian.aian_670_19","title":"Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS): Case report of a novel nonsense mutation in the SACS gene","year":2020,"lang":"en","type":"article","venue":"Annals of Indian Academy of Neurology","topic":"Plant biochemistry and biosynthesis","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Medicine; Nonsense mutation; Nonsense; Ataxia; Genetics; Mutation; Spastic; Gene; Physical medicine and rehabilitation; Missense mutation; Biology; Psychiatry","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":[0.0003475984,0.0001654433,0.0003741023,0.00007392705,0.00002192289,0.000002010491,0.0003192428,0.0004007156,0.00000593569],"category_scores_gemma":[0.0007408477,0.0001404291,0.0001338928,0.0002112173,0.0003181471,0.000006489918,0.00006829845,0.0002333708,6.009607e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":9.845886e-7,"about_ca_system_score_gemma":0.00007423048,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004579255,"about_ca_topic_score_gemma":0.000008610052,"domain_scores_codex":[0.9984025,0.0001528727,0.0007104807,0.0003476847,0.0001653342,0.0002210797],"domain_scores_gemma":[0.9986688,0.0001491558,0.0008383103,0.0001917913,0.00008277307,0.00006914628],"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":[0.000856804,0.000155772,0.000675844,0.0001672261,0.00007255866,0.002228643,0.000292982,0.0001258473,0.994604,0.000005856528,0.000534764,0.0002797169],"study_design_scores_gemma":[0.0004054164,0.0005560991,0.003802957,0.0000224283,0.00002926379,0.010771,0.00006159295,0.0001020164,0.9838321,0.00001271204,0.0002959598,0.0001084874],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914634,0.0002950165,0.00002766488,0.007547184,0.00001937909,0.0001707882,0.0004080852,0.000002860442,0.00006561479],"genre_scores_gemma":[0.9974915,0.0001469058,0.0001006084,0.002069143,0.00008241569,0.000005799726,0.00008329721,0.0000110741,0.000009276449],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01077192,"threshold_uncertainty_score":0.5726531,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05070651638667184,"score_gpt":0.2972408848456492,"score_spread":0.2465343684589774,"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."}}