{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002586021,0.001821123,0.0005182081,0.0008568191,0.0006114556,0.0004805592,0.0005530579,0.001301832,0.001838004],"category_scores_gemma":[0.001039437,0.0004234742,0.0004329923,0.0005383316,0.0009803118,0.0003364501,0.0007249414,0.0007175051,0.0005085156],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003919741,"about_ca_system_score_gemma":0.0004153502,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001334408,"about_ca_topic_score_gemma":0.001941942,"domain_scores_codex":[0.9996965,0.00003406622,0.00003565897,0.00007648901,0.00006335202,0.00009389433],"domain_scores_gemma":[0.999378,0.0001759616,0.0002244628,0.00003000865,0.0000347974,0.0001567502],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001086618,0.00006417106,0.01168725,0.0000572657,0.00002229419,0.9681683,0.0004143042,0.0000806266,0.01612709,0.0003594432,0.0005401847,0.002370371],"study_design_scores_gemma":[0.00003335735,0.0001596527,0.01751409,0.00001171112,0.00003398832,0.9760482,0.000123517,0.0001724337,0.004261688,0.0001028226,0.001524424,0.00001414288],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934222,0.0005871056,0.001513642,0.0002645913,0.00006864611,0.00005536888,0.0002309718,0.0001126399,0.003744715],"genre_scores_gemma":[0.9966512,0.0003243671,0.001177264,0.0001702064,0.000107997,0.00002128701,0.0001608773,0.00003363179,0.001353071],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001838004,"threshold_uncertainty_score":0.006148696,"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."}}