{"id":"W2102546213","doi":"10.1155/2012/303096","title":"Novel Autosomal Recessive<i>c10orf2</i>Mutations Causing Infantile-Onset Spinocerebellar Ataxia","year":2012,"lang":"en","type":"article","venue":"Case Reports in Pediatrics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Genetics; Spinocerebellar ataxia; Gene; Phenotype; Mutation; Mitochondrial DNA; Medicine; Population; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004105173,0.0002011017,0.0001938423,0.0001664124,0.00014546,0.00002731894,0.00004385623,0.0003300515,0.00007075039],"category_scores_gemma":[0.0007595689,0.0002122457,0.00009256929,0.0003433116,0.00006940059,0.00001739458,0.0001154167,0.0002096792,0.00001332051],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003359713,"about_ca_system_score_gemma":0.0001980875,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007264055,"about_ca_topic_score_gemma":0.00008006739,"domain_scores_codex":[0.9984038,0.00007000803,0.0005431115,0.0004004313,0.0001496024,0.000433082],"domain_scores_gemma":[0.9988658,0.00003692504,0.0003010686,0.0004842449,0.0001187972,0.0001931727],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.00009321831,0.0005066795,0.8189936,0.000121658,0.0000388812,0.02279695,0.0005765771,0.0006963285,0.1374183,0.00008505616,0.01749106,0.001181755],"study_design_scores_gemma":[0.001912901,0.0003220489,0.0225899,0.00003129329,0.0003314978,0.647355,0.0005955449,0.0001518271,0.04225813,0.0001198206,0.2826643,0.001667766],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865906,0.001389616,0.00736886,0.00003934537,0.003017345,0.0002282168,0.00005053954,0.00002986421,0.001285577],"genre_scores_gemma":[0.9919876,0.000194333,0.0046806,0.0002604782,0.001798817,0.00002565131,0.0003776173,0.00003454695,0.0006403489],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7964036,"threshold_uncertainty_score":0.8655129,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01689266175053974,"score_gpt":0.2751234951808478,"score_spread":0.2582308334303081,"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."}}