{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001807731,0.001869055,0.0005835484,0.001079613,0.001185071,0.0005019968,0.0004471635,0.001172298,0.002267064],"category_scores_gemma":[0.0009988653,0.0006156822,0.0007441294,0.0006935701,0.00076461,0.0004025812,0.0009677518,0.0007284558,0.0003274419],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006307936,"about_ca_system_score_gemma":0.0006079499,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00661842,"about_ca_topic_score_gemma":0.006607842,"domain_scores_codex":[0.9996112,0.00003225164,0.0000529616,0.0001521779,0.00006111222,0.00009035299],"domain_scores_gemma":[0.999616,0.00007551608,0.0001211141,0.00001810183,0.00003444418,0.0001348612],"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":[0.000332391,0.0001776377,0.1653628,0.0001301211,0.0001138975,0.8024664,0.001803549,0.0002892404,0.01993203,0.0003851684,0.001148303,0.007858386],"study_design_scores_gemma":[0.00005962396,0.0003271515,0.2264038,0.00005537534,0.00009769329,0.7674906,0.000801326,0.0003783633,0.002201421,0.0002497809,0.001885849,0.0000490663],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982451,0.0002524624,0.0003387296,0.0001233359,0.00003247735,0.00003113868,0.0002191769,0.00003163954,0.0007259197],"genre_scores_gemma":[0.9981641,0.0002027741,0.0006873178,0.0001919432,0.00003422779,0.00001834251,0.0002191581,0.00002762401,0.0004544037],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00661842,"threshold_uncertainty_score":0.01315975,"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."}}