{"id":"W3184414013","doi":"10.1159/000517548","title":"<b><i>CYP24A1</i></b> and <b><i>SLC34A1</i></b> Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria","year":2021,"lang":"en","type":"article","venue":"Hormone Research in Paediatrics","topic":"Vitamin D Research Studies","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; University of Manitoba; University of Calgary; McGill University; Queen's University; University of Ottawa; University of Alberta; University of Saskatchewan; Université Laval","funders":"","keywords":"CYP24A1; Internal medicine; Proband; Medicine; Hypercalciuria; Gastroenterology; Endocrinology; Biology; Genetics; Mutation; Vitamin D and neurology; Urinary system; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002203711,0.0004293011,0.0002644017,0.001161846,0.002257613,0.0006577803,0.0007049358,0.0003562023,0.004527903],"category_scores_gemma":[0.0006984486,0.0003649467,0.0003013564,0.00209422,0.0007726075,0.000232056,0.0004387151,0.0004458047,0.0005869203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005269228,"about_ca_system_score_gemma":0.006918032,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8681668,"about_ca_topic_score_gemma":0.9263521,"domain_scores_codex":[0.9996239,0.00001338876,0.00001619914,0.00009287496,0.0001279513,0.0001255985],"domain_scores_gemma":[0.9995327,0.00002522824,0.000152992,0.00002319522,0.000141856,0.0001240391],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007029623,0.00003262861,0.9902002,0.00003838809,0.00001990486,0.0009043309,0.0008139785,0.00004261767,0.001209118,0.0001242472,0.001611898,0.004932406],"study_design_scores_gemma":[0.00001190921,0.00004279711,0.9942595,0.00002599782,0.00002878185,0.001549089,0.001027229,0.0000642731,0.0002790126,0.00002747992,0.002674362,0.000009586309],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944063,0.0002943876,0.0001383985,0.000111039,0.000005334378,0.00008442748,0.002149288,0.0000151048,0.002795751],"genre_scores_gemma":[0.9946622,0.0005505314,0.0005770316,0.0001656955,0.000007186915,0.0000768136,0.0015539,0.00001331327,0.002393398],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1318332,"threshold_uncertainty_score":0.2652192,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0307089776525992,"score_gpt":0.2993775106866685,"score_spread":0.2686685330340693,"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."}}