{"id":"W2131766644","doi":"10.1210/jc.2011-1972","title":"Genetic Defect in<i>CYP24A1</i>, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia","year":2011,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Vitamin D Research Studies","field":"Medicine","cited_by":128,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; Harvard Catalyst; Yale University; National Institutes of Health; Harvard University","keywords":"Cohort; Medicine; CYP24A1; Vitamin D and neurology; Newborn screening; Exome sequencing; Genetic testing; Etiology; Pediatrics; Internal medicine; Bioinformatics; Genetics; Gene; Calcitriol receptor; Biology; Mutation","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":[0.0002317545,0.000831833,0.0004756144,0.0006816536,0.0007339008,0.000372748,0.0004100286,0.0007283828,0.0008865074],"category_scores_gemma":[0.001339718,0.0002778222,0.0003432442,0.0004509537,0.0005080742,0.0002018692,0.0004040431,0.0007525997,0.0001763596],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003380449,"about_ca_system_score_gemma":0.0003195748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001534983,"about_ca_topic_score_gemma":0.001287163,"domain_scores_codex":[0.9997665,0.00003511639,0.00002845071,0.00007515519,0.00004479136,0.00004985142],"domain_scores_gemma":[0.9993937,0.0001967357,0.0001636107,0.00003667556,0.00005363467,0.0001556419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.000602079,0.0002068323,0.4977154,0.00007682373,0.00007430406,0.4627046,0.001553429,0.000459413,0.02696381,0.0002734037,0.0006078724,0.008762058],"study_design_scores_gemma":[0.00004902434,0.0008661599,0.3776451,0.00001569511,0.00006438365,0.6140996,0.0004200086,0.0008397576,0.005167938,0.0001130465,0.0006940079,0.00002531538],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991965,0.00009027941,0.0002445186,0.00008978965,0.000004745014,0.00001201906,0.00004955861,0.00001060156,0.0003020093],"genre_scores_gemma":[0.9994034,0.00005554835,0.0003175703,0.00005824343,0.00001981376,0.000004987841,0.00004926255,0.000005070719,0.00008611475],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001534983,"threshold_uncertainty_score":0.003052115,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04715612010193648,"score_gpt":0.3365998460799028,"score_spread":0.2894437259779664,"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."}}