{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001919394,0.001300635,0.0003284499,0.0007628785,0.0002597299,0.0002087607,0.0002202249,0.0004871181,0.001218122],"category_scores_gemma":[0.0006228695,0.0002312818,0.0001638514,0.0004493319,0.0005474407,0.0001836322,0.000473566,0.0003781246,0.0002875389],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000191445,"about_ca_system_score_gemma":0.0002235293,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004839849,"about_ca_topic_score_gemma":0.0004364829,"domain_scores_codex":[0.999808,0.00003393066,0.00003709102,0.00005386712,0.0000424557,0.00002477038],"domain_scores_gemma":[0.9997464,0.00006501441,0.00008499021,0.00001757402,0.00002173815,0.00006431913],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001220502,0.0001634617,0.1971965,0.0007494956,0.000203963,0.3870498,0.001086537,0.000547373,0.369114,0.001904509,0.002362177,0.03840169],"study_design_scores_gemma":[0.0001193312,0.0008699577,0.1571225,0.0001483326,0.0002250439,0.7864981,0.0003896376,0.001483941,0.04380308,0.001193919,0.008114146,0.00003189635],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920814,0.002641148,0.002532245,0.0001991903,0.00004897202,0.0000403328,0.0002740941,0.0001919182,0.001990724],"genre_scores_gemma":[0.9976287,0.0006631859,0.0009600526,0.0000978579,0.00002264487,0.000007995246,0.0001366044,0.00001393206,0.000469084],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001300635,"threshold_uncertainty_score":0.004074991,"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."}}