{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003354908,0.0004304556,0.001465014,0.0004678304,0.0001997759,0.00002177931,0.0002094388,0.0007019631,0.0001533914],"category_scores_gemma":[0.0003689042,0.0002887394,0.00040639,0.0008260011,0.0007730936,0.00008118765,0.00008690679,0.001092408,0.00006019374],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002242112,"about_ca_system_score_gemma":0.0007201254,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000229207,"about_ca_topic_score_gemma":0.00005372399,"domain_scores_codex":[0.9967446,0.0005678793,0.001033583,0.0005935098,0.0005570048,0.000503401],"domain_scores_gemma":[0.9983814,0.0005228786,0.0003088457,0.0004399562,0.0001015316,0.0002453931],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001285851,0.0001121826,0.00001066579,0.003257179,0.00006435387,0.0001512798,0.0002913886,0.000002340845,0.0009167984,0.0000579352,0.0008427597,0.9941645],"study_design_scores_gemma":[0.008683982,0.002209345,0.006903909,0.02092057,0.002146498,0.003920088,0.0004468225,0.0005786057,0.0003230431,0.002108359,0.9501514,0.001607337],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1050977,0.8900318,0.00004635983,0.00009362462,0.0002661956,0.002271025,0.001686642,0.00003986469,0.0004668095],"genre_scores_gemma":[0.02752242,0.964985,0.0004656129,0.0001283956,0.0004294257,0.00009894237,0.005963955,0.00008140389,0.0003248072],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9925572,"threshold_uncertainty_score":0.9999565,"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."}}