{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001175717,0.0004154132,0.001642678,0.0002376142,0.0003027121,0.00002625857,0.0005613444,0.0003021888,0.0001202364],"category_scores_gemma":[0.001968103,0.0002491885,0.0007443675,0.0003192835,0.001431142,0.000181986,0.0001904538,0.001402181,0.001171992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004039718,"about_ca_system_score_gemma":0.0004675619,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001419734,"about_ca_topic_score_gemma":0.000007348126,"domain_scores_codex":[0.9949898,0.0009381784,0.002166308,0.0003738542,0.000668022,0.0008638791],"domain_scores_gemma":[0.9958129,0.0009667988,0.001251285,0.0008178668,0.0006123696,0.0005387944],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0417111,0.008941554,0.02491466,0.0000235092,0.01106704,0.009889226,0.003226149,0.0000221378,0.1110037,0.006112226,0.6682727,0.114816],"study_design_scores_gemma":[0.05453428,0.01017933,0.187867,0.0001050618,0.007234033,0.05735665,0.0009329186,0.0002049999,0.03559374,0.01375873,0.6311412,0.001092053],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9442797,0.04118036,0.0003125999,0.006308228,0.003106705,0.0003693793,0.000007451837,0.00004623762,0.004389288],"genre_scores_gemma":[0.9816838,0.006129996,0.001436915,0.003982973,0.004306296,0.000003014469,0.00000460007,0.00005578515,0.002396624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1629524,"threshold_uncertainty_score":0.999996,"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."}}