{"id":"W2990408856","doi":"","title":"Особенности спектра мутаций при наследственной тирозинемии I типа в различных популяциях Российской Федерации","year":2017,"lang":"ru","type":"article","venue":"Медицинская генетика","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Allele frequency; Allele; Genetics; Demography; Mutation; Ethnic group; Incidence (geometry); Founder effect; Gene; Biology; Geography; Haplotype; Political science","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001036924,0.0003740754,0.0005542025,0.001677587,0.001183772,0.002379173,0.0005615135,0.0008284872,0.01538851],"category_scores_gemma":[0.001547863,0.0005742799,0.0005903798,0.00172187,0.00157594,0.0008970128,0.001004486,0.001284253,0.005438803],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009379659,"about_ca_system_score_gemma":0.001768093,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002610765,"about_ca_topic_score_gemma":0.004239223,"domain_scores_codex":[0.9987891,0.0002062117,0.00006374059,0.000230066,0.0005683359,0.0001425751],"domain_scores_gemma":[0.9991618,0.0002080014,0.0001710324,0.0001297686,0.0002447497,0.00008463422],"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":[0.0003842164,0.0001924169,0.008030846,0.001281356,0.0001237039,0.003068045,0.001787472,0.00290143,0.2422797,0.162099,0.01181473,0.5660371],"study_design_scores_gemma":[0.00008597443,0.0003436872,0.01342957,0.0003871117,0.0001605699,0.005291177,0.001331406,0.003204121,0.1347552,0.04638136,0.7943818,0.0002479635],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"other","genre_gemma":"empirical","genre_scores_codex":[0.2570145,0.0933305,0.2483917,0.00720504,0.002929191,0.0005162361,0.002085773,0.001094572,0.3874325],"genre_scores_gemma":[0.7387609,0.04043841,0.1424454,0.0007237503,0.0006637978,0.0006565059,0.0009703764,0.0005153687,0.07482541],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01538851,"threshold_uncertainty_score":0.0514797,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01116547758684239,"score_gpt":0.2749701166413225,"score_spread":0.2638046390544802,"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."}}