{"id":"W2024245448","doi":"10.1515/jpem.2010.156","title":"Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia","year":2010,"lang":"en","type":"article","venue":"Journal of Pediatric Endocrinology and Metabolism","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University of Calgary","funders":"","keywords":"Medicine; Kabuki; Pediatrics; Kabuki syndrome; Dermatology","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":[0.00009508136,0.0001547437,0.0002579481,0.0001890232,0.00006794128,0.00001588308,0.0001225625,0.0001012526,0.000007711461],"category_scores_gemma":[0.0001008515,0.0001140985,0.00006469242,0.0000888416,0.0001322896,0.00001035449,0.00008049641,0.0003370761,9.02242e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002471424,"about_ca_system_score_gemma":0.0001222368,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000010326,"about_ca_topic_score_gemma":0.00001690493,"domain_scores_codex":[0.9991313,0.00004164291,0.0002617768,0.0002136522,0.00008900007,0.0002626442],"domain_scores_gemma":[0.999388,0.00001932871,0.0001416453,0.0001390856,0.00006796864,0.0002439701],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003316229,0.001005393,0.919614,0.00018339,0.0004350074,0.01869331,0.000232343,0.00008304293,0.03548771,0.002198917,0.0007868449,0.01796379],"study_design_scores_gemma":[0.002044349,0.0001597935,0.9852148,0.000005475806,0.0002484047,0.005785866,0.00003506918,0.000003572658,0.0002072194,0.000260954,0.005858197,0.0001763332],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9768734,0.02238913,0.00001788291,0.0001963124,0.0003434101,0.0000856553,0.00001682998,0.00000269569,0.00007470443],"genre_scores_gemma":[0.98497,0.01375489,0.000354918,0.000135542,0.0007239926,0.000004636847,0.000004929111,0.00001330489,0.00003781005],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06560075,"threshold_uncertainty_score":0.46528,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003954763942070507,"score_gpt":0.2112326370929728,"score_spread":0.2072778731509023,"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."}}