{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004282199,0.001653287,0.0008506601,0.003014357,0.0008167528,0.0008855943,0.0006653179,0.001621093,0.00528889],"category_scores_gemma":[0.003906003,0.0003181742,0.0003394749,0.001950788,0.001404144,0.0006861463,0.0006880862,0.000620338,0.0005382028],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003613907,"about_ca_system_score_gemma":0.0005696315,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001799793,"about_ca_topic_score_gemma":0.001084712,"domain_scores_codex":[0.9992917,0.00008803388,0.00007969888,0.0001930757,0.0001241512,0.0002233889],"domain_scores_gemma":[0.9976817,0.000936937,0.0005755723,0.0001557561,0.0001605955,0.0004895083],"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":[0.0007959098,0.0001372167,0.3406675,0.0001664086,0.00007222847,0.6198296,0.000599676,0.0007917327,0.02276703,0.0009028577,0.001467377,0.01180242],"study_design_scores_gemma":[0.00004673317,0.0001642598,0.1954467,0.00004953644,0.00005840928,0.8000143,0.0003718661,0.0006668225,0.00148398,0.000762568,0.0009041147,0.00003077439],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890731,0.001167956,0.0009479217,0.000321212,0.000031536,0.00005491408,0.0003370153,0.00005892376,0.008007351],"genre_scores_gemma":[0.9988266,0.0002285447,0.0003880061,0.0000749363,0.00007311899,0.00001137493,0.0001726835,0.00001470375,0.0002099978],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00528889,"threshold_uncertainty_score":0.0176931,"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."}}