{"id":"W1998843632","doi":"10.1002/1098-1004(200010)16:4<281::aid-humu1>3.0.co;2-a","title":"Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia","year":2000,"lang":"en","type":"review","venue":"Human Mutation","topic":"Biomedical Research and Pathophysiology","field":"Medicine","cited_by":277,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Royal Victoria Hospital; McGill University","funders":"","keywords":"Calcium-sensing receptor; Endocrinology; Internal medicine; Asymptomatic; Parathyroid hormone; Hyperparathyroidism; Biology; Calcium metabolism; Calcium; Medicine","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":[0.0003036535,0.0009232954,0.0004001553,0.0009447248,0.0003553753,0.0002757272,0.0005619338,0.001170131,0.002062366],"category_scores_gemma":[0.001612474,0.0002297719,0.0004789967,0.0007143996,0.0006762881,0.0001911617,0.000718751,0.0003024738,0.0006123115],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00041794,"about_ca_system_score_gemma":0.000432944,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002592579,"about_ca_topic_score_gemma":0.002068509,"domain_scores_codex":[0.9996235,0.00005652107,0.00007680966,0.00007662083,0.0001231371,0.00004334352],"domain_scores_gemma":[0.9996,0.0001066511,0.0001469004,0.00001933901,0.00004600358,0.00008110917],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001173225,0.0001458367,0.05314466,0.000623141,0.0002769367,0.6894216,0.001395821,0.001539354,0.2105765,0.002779755,0.002859549,0.03606367],"study_design_scores_gemma":[0.0001481729,0.0001876254,0.09792882,0.0001200244,0.0002263112,0.8637534,0.000179731,0.00170382,0.02573443,0.0006825781,0.009275199,0.00005989369],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9839781,0.004578596,0.003143453,0.0003723006,0.0001420262,0.0001139274,0.000665095,0.0002484079,0.006758139],"genre_scores_gemma":[0.9951887,0.001129134,0.001869834,0.0001036063,0.00004897837,0.00002561531,0.0002310115,0.00003236455,0.00137077],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.002592579,"threshold_uncertainty_score":0.006899357,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0553402952099155,"score_gpt":0.358157961774837,"score_spread":0.3028176665649215,"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."}}