{"id":"W2804859456","doi":"10.1210/jc.2017-02407","title":"Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism","year":2018,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Canadian Institutes of Health Research","keywords":"Endocrinology; Proband; Hypoparathyroidism; Calcium-sensing receptor; Internal medicine; Allele; Loss of heterozygosity; Single-nucleotide polymorphism; Compound heterozygosity; Biology; Hypomagnesemia; Hyperphosphatemia; Heterozygote advantage; Genetics; Mutation; Genotype; Parathyroid hormone; Medicine; Gene; Chemistry; Calcium; Kidney disease","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":[0.0001174599,0.001256735,0.0005760317,0.0009293641,0.0006168555,0.0004064132,0.0004075401,0.001195117,0.004714577],"category_scores_gemma":[0.0007747812,0.0002724859,0.0004286644,0.0005443121,0.000492268,0.0002187116,0.0003379211,0.0004417616,0.0007720219],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002588762,"about_ca_system_score_gemma":0.0002499784,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007814986,"about_ca_topic_score_gemma":0.0008830177,"domain_scores_codex":[0.9997384,0.0000325403,0.00003059579,0.00008565799,0.0000621393,0.00005064446],"domain_scores_gemma":[0.9997821,0.00006071883,0.00008131581,0.00001053805,0.00001487043,0.00005047386],"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":[0.000477058,0.0001953055,0.1470238,0.0001233462,0.00009465683,0.7013441,0.0005648513,0.0001836089,0.1423559,0.0004792953,0.001050258,0.006107857],"study_design_scores_gemma":[0.00005866451,0.0002881819,0.1115405,0.00003343043,0.0001252283,0.8751399,0.0003042546,0.0004151913,0.009908933,0.00032639,0.001832707,0.00002660126],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972796,0.0003578936,0.000396009,0.0002056971,0.00003539676,0.00002681769,0.0001569159,0.00004569676,0.001495926],"genre_scores_gemma":[0.9990222,0.0001526947,0.0002517332,0.00005419739,0.00003444105,0.000007478096,0.00008356516,0.000008560262,0.0003851065],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004714577,"threshold_uncertainty_score":0.01577181,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07604594062851538,"score_gpt":0.4163958574341012,"score_spread":0.3403499168055858,"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."}}