{"id":"W2141859248","doi":"10.1210/jc.2007-0123","title":"Identification and Functional Characterization of a Novel Mutation in the Calcium-Sensing Receptor Gene in Familial Hypocalciuric Hypercalcemia: Modulation of Clinical Severity by Vitamin D Status","year":2007,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"Concordia University; McGill University; Royal Victoria Hospital","funders":"Canadian Institutes of Health Research; Kidney Foundation of Canada; McGill University","keywords":"Proband; Endocrinology; Internal medicine; Calcium-sensing receptor; Calcitriol receptor; Mutation; Exon; Hyperparathyroidism; Vitamin D and neurology; Parathyroid hormone; Medicine; Biology; Calcium; Gene; Genetics","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":[0.0001402352,0.0004184004,0.0003382278,0.0005682207,0.0001899712,0.0001739797,0.0002749586,0.0006088162,0.001117809],"category_scores_gemma":[0.0004739953,0.000114419,0.0003313191,0.0002233478,0.0003644895,0.00009367718,0.0001976982,0.0002612421,0.0002019397],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000197192,"about_ca_system_score_gemma":0.0001943543,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009645094,"about_ca_topic_score_gemma":0.0007266066,"domain_scores_codex":[0.9998741,0.00001527871,0.00002163749,0.00003956379,0.00003145469,0.0000178467],"domain_scores_gemma":[0.9997713,0.00008458496,0.00006309573,0.0000130778,0.0000195164,0.00004842819],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006643708,0.0002142189,0.04956404,0.0001097796,0.00006776818,0.1038738,0.0005093234,0.0002566188,0.838519,0.0002407393,0.0001752818,0.005805128],"study_design_scores_gemma":[0.0001574941,0.001526509,0.3701605,0.00003163015,0.0002285411,0.4356154,0.0004013061,0.003365698,0.1850629,0.00020376,0.003187374,0.00005890335],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990901,0.0001376998,0.0004983962,0.00003137917,0.000005393745,0.00001169576,0.00008613228,0.00001446669,0.0001248198],"genre_scores_gemma":[0.9990215,0.00006058354,0.0005922622,0.00001716812,0.000007240283,0.000006226425,0.000110038,0.000004936219,0.0001799997],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001117809,"threshold_uncertainty_score":0.003739417,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07137434597277381,"score_gpt":0.3864219530045638,"score_spread":0.31504760703179,"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."}}