{"id":"W2174816877","doi":"10.1210/jc.2015-1518","title":"Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by<i>AP2S1</i>Mutation","year":2015,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; McGill University Health Centre","funders":"Canadian Institutes of Health Research; Novo Nordisk Fonden","keywords":"Cinacalcet; Hypoparathyroidism; Hypocalciuria; Medicine; Internal medicine; Endocrinology; Missense mutation; Mutation; Hypoplasia; Parathyroid hormone; Genetics; Biology; Calcium; Chemistry; Secondary hyperparathyroidism; Hypomagnesemia","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001142277,0.0006679651,0.0007130335,0.000689884,0.000805639,0.000342204,0.0004196765,0.001638877,0.0007235842],"category_scores_gemma":[0.0006089047,0.0003535569,0.0005185439,0.0004596326,0.0004859396,0.0003029962,0.0002971332,0.001124822,0.000139029],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006922949,"about_ca_system_score_gemma":0.0006511968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00342464,"about_ca_topic_score_gemma":0.006494875,"domain_scores_codex":[0.9998434,0.00001700666,0.00001927554,0.00004715525,0.00003299319,0.00004018785],"domain_scores_gemma":[0.9997168,0.00005230306,0.00006829057,0.00001059027,0.00002135424,0.0001306328],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003843601,0.0001991663,0.04880741,0.00008545857,0.00004999527,0.9312438,0.0002834311,0.000290674,0.01104805,0.0002131528,0.0004265504,0.006967878],"study_design_scores_gemma":[0.0001277421,0.0006858185,0.04982916,0.00004979021,0.0001392486,0.9407802,0.0001715196,0.001145541,0.004303405,0.0002057421,0.002538479,0.00002331118],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944032,0.002379248,0.0005784731,0.0007539822,0.00006441421,0.00004507653,0.00009833054,0.00005498805,0.001622315],"genre_scores_gemma":[0.9982622,0.0005764781,0.0004062412,0.0002767415,0.00004798524,0.00001123899,0.00006577985,0.000007128037,0.0003463461],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00342464,"threshold_uncertainty_score":0.006809413,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07412539152293866,"score_gpt":0.3913918669538867,"score_spread":0.317266475430948,"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."}}