{"id":"W2999634369","doi":"10.1212/nxg.0000000000000392","title":"<i>COL4A1</i> -related autosomal recessive encephalopathy in 2 Turkish children","year":2020,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Cerebrovascular and genetic disorders","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Human Genome Research Institute; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Medical Research Council; Newton Fund; Vrije Universiteit Amsterdam; Wellcome Trust","keywords":"Leukoencephalopathy; Missense mutation; Penetrance; Exome sequencing; Medicine; Genetics; Disease gene identification; Compound heterozygosity; Encephalopathy; Consanguinity; Disease; Pediatrics; Global developmental delay; Phenotype; Pathology; Biology; Internal medicine; 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":[0.00006811075,0.0001951471,0.0003455232,0.000080396,0.00003557871,0.000009483079,0.0001749264,0.0002539892,0.0002619618],"category_scores_gemma":[0.0001025449,0.0001978446,0.0001208209,0.0003967022,0.0001467634,0.00001799966,0.00009613687,0.0004955514,0.0001310375],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007179098,"about_ca_system_score_gemma":0.0001099599,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001286926,"about_ca_topic_score_gemma":0.00002351913,"domain_scores_codex":[0.998473,0.0001084518,0.0003405113,0.0005042709,0.0002062845,0.000367476],"domain_scores_gemma":[0.999357,0.00003172628,0.00006712498,0.0002865011,0.00004339073,0.0002142705],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002317095,0.0001777666,0.9770761,0.00002289017,0.00008289678,0.0001897076,0.001114483,0.0009554073,0.002656714,0.00002388222,0.001326384,0.01614206],"study_design_scores_gemma":[0.003815918,0.001398039,0.9858086,0.000007796031,0.0001078341,0.0002303809,0.00002913742,0.001314325,0.001164149,0.0001849052,0.005739722,0.0001992034],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9851546,0.001519329,0.00004433256,0.008780438,0.0002046876,0.0004872761,0.000006316805,0.00008292167,0.003720109],"genre_scores_gemma":[0.983622,0.0005137919,0.0002546852,0.01534333,0.0001179693,0.00001481294,0.00004192817,0.00003702834,0.0000545316],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01594286,"threshold_uncertainty_score":0.8067868,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007529697851358078,"score_gpt":0.2249201535045728,"score_spread":0.2173904556532147,"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."}}