{"id":"W2985816455","doi":"10.1002/mdc3.12872","title":"Episodic Ataxia Secondary to <i>CEP290</i> Compound Heterozygous Mutations: A Case Report","year":2019,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Compound heterozygosity; Ataxia; Genetics; Mutation; Psychology; Neuroscience; Biology; Gene","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":[0.001059134,0.0002112932,0.0002750965,0.00005145459,0.0001307504,0.00005118245,0.0001728662,0.0002315067,0.0005699664],"category_scores_gemma":[0.002388608,0.0002151467,0.0001940958,0.0001314003,0.00008269268,0.00002345561,0.0001953188,0.0003364376,0.0007371281],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001733128,"about_ca_system_score_gemma":0.0001196622,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000138508,"about_ca_topic_score_gemma":0.0003420318,"domain_scores_codex":[0.9974319,0.0004201377,0.0008457967,0.0007856926,0.0002103903,0.0003060266],"domain_scores_gemma":[0.9981087,0.000381008,0.0003396479,0.0008087826,0.0001450483,0.0002168028],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.008181494,0.007525299,0.05810665,0.0002501479,0.001822061,0.03797202,0.0008353421,0.002077428,0.09429032,0.001251816,0.7059627,0.08172476],"study_design_scores_gemma":[0.001963733,0.001674542,0.00055456,0.000008510916,0.00007332818,0.003136878,0.0006772651,0.00003664539,0.0005171279,0.0004853687,0.9905075,0.000364532],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9289187,0.0005344853,0.02013956,0.008033399,0.004805902,0.001748063,0.00006448648,0.00006506166,0.03569033],"genre_scores_gemma":[0.8521502,0.0003445001,0.01475496,0.112142,0.0009303648,0.0002037596,0.0009097296,0.00009331875,0.01847116],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2845449,"threshold_uncertainty_score":0.9474537,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02141660910821087,"score_gpt":0.3452544907822279,"score_spread":0.323837881674017,"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."}}