{"id":"W2141208833","doi":"10.1038/ejhg.2013.40","title":"Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects","year":2013,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":142,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Allergy and Infectious Diseases","keywords":"DNMT3B; Immunodeficiency; Disease; Incidence (geometry); Genetics; Gene mutation; Primary immunodeficiency; Biology; Mutation; Medicine; Gene; Pathology; DNA methylation; Immune system","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":[0.000606748,0.0001341624,0.0002329366,0.0001501551,0.0001392592,0.00003516229,0.0002454391,0.00005712656,0.0001955244],"category_scores_gemma":[0.00003034775,0.0001106172,0.00009284668,0.000103539,0.0001601402,0.0001079814,0.00004222546,0.0004135793,0.0002333014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000020917,"about_ca_system_score_gemma":0.00002995077,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006294789,"about_ca_topic_score_gemma":0.000002624327,"domain_scores_codex":[0.9979945,0.0008116228,0.0007625162,0.0001432024,0.00006148088,0.000226664],"domain_scores_gemma":[0.9991778,0.00005870061,0.0004599028,0.0001744041,0.0001167416,0.00001244007],"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":[0.0004674607,0.001784729,0.2541975,0.00007481014,0.000785539,0.001285138,0.007037981,0.05851623,0.5790507,0.0001121544,0.0007634374,0.09592433],"study_design_scores_gemma":[0.003114484,0.00225594,0.9893296,0.00009976062,0.00006118287,0.001357638,0.0005430375,0.00008015233,0.002193847,0.00008787223,0.0006616502,0.0002148164],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900181,0.007451884,0.001195007,0.00002819349,0.0004122067,0.0001628512,6.73963e-7,0.00001140693,0.0007197209],"genre_scores_gemma":[0.9992946,0.000124931,0.0001835904,0.00006074296,0.000007359883,0.000001098946,0.00001922389,0.00002662732,0.0002817739],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7351321,"threshold_uncertainty_score":0.451084,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03438445228821142,"score_gpt":0.2845090600593919,"score_spread":0.2501246077711805,"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."}}