{"id":"W2046969420","doi":"10.1023/b:boli.0000037339.25821.87","title":"OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation?","year":2004,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Heart and Stroke Foundation of Canada","keywords":"Mutation; Founder effect; Genetics; Suppressor mutation; Biology; Proband; Mutation testing; Population; Gene; Medicine; Haplotype; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004335353,0.0002667557,0.000355685,0.0003352958,0.00008184703,0.00008424737,0.0002446001,0.000118659,0.00006447893],"category_scores_gemma":[0.0007103786,0.0002299761,0.000203807,0.0006057096,0.00009770436,0.00004429332,0.00004108213,0.0001788472,0.00001202231],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000375217,"about_ca_system_score_gemma":0.0008430157,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003103733,"about_ca_topic_score_gemma":0.0001870704,"domain_scores_codex":[0.9977779,0.000166693,0.0008452346,0.0003442435,0.0005090414,0.0003569071],"domain_scores_gemma":[0.9981923,0.00001746765,0.0005393417,0.0002950444,0.0005700044,0.0003858423],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0232078,0.01260365,0.01674494,0.001112738,0.001984736,0.004636909,0.008070052,0.3195259,0.1180986,0.006164196,0.007418771,0.4804317],"study_design_scores_gemma":[0.02042381,0.001215632,0.8546053,0.0003919299,0.0007578882,0.0005830998,0.002483185,0.0004356111,0.007253606,0.01208262,0.09851856,0.001248785],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9754922,0.01478147,0.007667817,0.0005946879,0.0008523455,0.0004017555,0.00002544114,0.000008930002,0.0001753275],"genre_scores_gemma":[0.9949149,0.001054545,0.002230134,0.001056996,0.0004352981,0.0000311175,0.0001314533,0.00003652932,0.0001090362],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8378603,"threshold_uncertainty_score":0.9378153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01617632617804334,"score_gpt":0.2874043678165104,"score_spread":0.271228041638467,"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."}}