{"id":"W2146230109","doi":"10.1038/ng1842","title":"Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection","year":2006,"lang":"en","type":"article","venue":"Nature Genetics","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":673,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Biology; Ribonuclease; Gene; Genetics; Mutation; Immune system; Virology; RNA","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":[0.0002122398,0.001657193,0.0004931227,0.001400496,0.0005284557,0.0004679236,0.000676089,0.00221633,0.002031323],"category_scores_gemma":[0.002105105,0.0004423738,0.0004206758,0.0006641013,0.001589161,0.0003662643,0.0008723834,0.0009372784,0.0004177355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004932515,"about_ca_system_score_gemma":0.0003031447,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001230262,"about_ca_topic_score_gemma":0.001483566,"domain_scores_codex":[0.999714,0.00005946041,0.00003976768,0.00005413224,0.00007037273,0.00006234987],"domain_scores_gemma":[0.999059,0.0003850734,0.0002658162,0.00006628993,0.00002743874,0.0001964093],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001044992,0.00008361563,0.02905423,0.0001036014,0.0001239813,0.7125603,0.0005634235,0.0009800342,0.2485623,0.001696946,0.0006246449,0.004601867],"study_design_scores_gemma":[0.0002866688,0.0003863027,0.08716912,0.00003388731,0.0001934587,0.8364986,0.0003901079,0.003069397,0.06792689,0.001486541,0.002481648,0.00007746992],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967325,0.0003044528,0.0008731226,0.0001575925,0.00005287692,0.00002222153,0.0001413697,0.00009669897,0.001619288],"genre_scores_gemma":[0.9986789,0.0001314081,0.0007232563,0.00004563023,0.00002801589,0.000009297205,0.0000521375,0.00002557082,0.0003058934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00221633,"threshold_uncertainty_score":0.006795466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007115428587781737,"score_gpt":0.2437710001313742,"score_spread":0.2366555715435924,"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."}}