{"id":"W2151372200","doi":"10.1186/1750-1172-7-67","title":"Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":159,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Ottawa Hospital; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Institute of Genetics; Canadian Institutes of Health Research","keywords":"Spinocerebellar ataxia; Missense mutation; Genetics; Biology; Cerebellar ataxia; Ataxia; Mutation; Neuroscience; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001122206,0.0003124932,0.0003892282,0.0003087622,0.0001534168,0.00009783151,0.0003794124,0.00005941029,0.0004097953],"category_scores_gemma":[0.001655568,0.0002677005,0.0002227036,0.0004067958,0.0002694404,0.0006476793,0.00008772591,0.0002169287,0.00008707704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000721994,"about_ca_system_score_gemma":0.0003167389,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006829337,"about_ca_topic_score_gemma":0.000007411146,"domain_scores_codex":[0.9973543,0.0004389264,0.0006475761,0.0003090385,0.000636576,0.0006136256],"domain_scores_gemma":[0.9978536,0.0003858272,0.0005281082,0.0002865864,0.0002081529,0.0007377075],"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":[0.001179212,0.003780605,0.3859931,0.0001302353,0.0001269031,0.01223642,0.001688715,0.0009876578,0.5862026,0.0003940692,0.004558554,0.002721999],"study_design_scores_gemma":[0.002826754,0.0004386438,0.2365884,0.0001384878,0.0004108553,0.002617018,0.0005992363,0.0001261183,0.7541214,0.0001469806,0.001415026,0.000571044],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940777,0.004275968,0.00003481439,0.0001599897,0.0006608441,0.0002997152,0.0003908755,0.00002031715,0.00007972089],"genre_scores_gemma":[0.9987574,0.000137376,0.0001958047,0.0003285835,0.0003852531,0.00001606564,0.00001616972,0.00004249229,0.0001208684],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1679189,"threshold_uncertainty_score":0.9999775,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.024917100116782,"score_gpt":0.286023430570627,"score_spread":0.261106330453845,"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."}}