{"id":"W2969745156","doi":"10.1172/jci128903","title":"Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress","year":2019,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child, Adolescent and Family Mental Health","funders":"Oesterreichische Nationalbank; Universität Wien; Medizinische Universität Wien; European Commission; Cancer Research Institute; Österreichischen Akademie der Wissenschaften; Wellcome Trust; Centers for Disease Control and Prevention; Austrian Science Fund; Jeffrey Modell Foundation","keywords":"Immunodeficiency; Medicine; Virology; Immunologic Deficiency Syndromes; Biology; Genetics","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":[0.001515509,0.0002215249,0.0006592667,0.0001771339,0.0001701239,0.00003310446,0.0004969976,0.0002652065,0.0003003415],"category_scores_gemma":[0.0006402522,0.0001568623,0.0002564146,0.000359975,0.0006966564,0.0004430399,0.00005455088,0.0008632278,0.0003778533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003264386,"about_ca_system_score_gemma":0.0004600264,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005155004,"about_ca_topic_score_gemma":0.000001943659,"domain_scores_codex":[0.9970678,0.0004387663,0.001705423,0.0003185623,0.0001305042,0.0003389324],"domain_scores_gemma":[0.9967995,0.0005822995,0.001748885,0.0004767081,0.0003665425,0.0000261156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002503799,0.002646309,0.3989414,0.0001868769,0.000817433,0.00004328755,0.003830496,0.001344905,0.5358141,0.01028519,0.0005888016,0.04299745],"study_design_scores_gemma":[0.01465185,0.01121787,0.7698958,0.00152466,0.0006044699,0.001497903,0.006799583,0.000123809,0.1795872,0.002975388,0.009727436,0.001394008],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9855222,0.01125976,0.0001817329,0.0004512448,0.001199747,0.0002266482,0.00001048686,0.00002932006,0.001118847],"genre_scores_gemma":[0.9986173,0.0002141875,0.0001157586,0.000294646,0.00001221949,0.000003769078,0.00002520394,0.00001966749,0.000697261],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3709545,"threshold_uncertainty_score":0.6396658,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02606833519726811,"score_gpt":0.3085938198216083,"score_spread":0.2825254846243402,"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."}}