{"id":"W2128829681","doi":"10.1210/jc.2004-1791","title":"Functional Characterization of Calcium-Sensing Receptor Codon 227 Mutations Presenting as Either Familial (Benign) Hypocalciuric Hypercalcemia or Neonatal Hyperparathyroidism","year":2005,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Royal Victoria Hospital","funders":"","keywords":"Mutation; Calcium-sensing receptor; Mutant; Proband; Endocrinology; Internal medicine; Compound heterozygosity; Exon; Hyperparathyroidism; Wild type; Biology; Molecular biology; Genetics; Calcium; Calcium metabolism; Medicine; Gene","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":[0.000162346,0.0002889096,0.0002834742,0.0002302339,0.00007862188,0.0003308223,0.0002189215,0.0003589046,0.0009221441],"category_scores_gemma":[0.0003878351,0.0001211686,0.0002621023,0.0001445277,0.0001854774,0.0001069845,0.0001319131,0.0002005558,0.0004301526],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001837728,"about_ca_system_score_gemma":0.0001117129,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007053545,"about_ca_topic_score_gemma":0.00067785,"domain_scores_codex":[0.9998463,0.00001850359,0.00002972301,0.00002832811,0.000057008,0.00002020289],"domain_scores_gemma":[0.9998547,0.00004438715,0.00004010335,0.00001599137,0.00001902546,0.00002584572],"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":[0.00007245565,0.00001520582,0.001707484,0.00003841165,0.00001209965,0.0009408661,0.00002932785,0.00005415263,0.9961515,0.00005463078,0.00002373683,0.0009000971],"study_design_scores_gemma":[0.00005329611,0.0004535049,0.06119962,0.00001360019,0.0001106184,0.03412319,0.0001941353,0.003045822,0.8977306,0.00007728035,0.002981809,0.00001647771],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986032,0.0003090368,0.000525235,0.0000248962,0.000004078531,0.000006535057,0.000185369,0.00001564529,0.0003261487],"genre_scores_gemma":[0.9975134,0.0003931086,0.001112373,0.00002292419,0.000004030346,0.0000100157,0.0005346628,0.00001354945,0.0003958481],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009221441,"threshold_uncertainty_score":0.003084898,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07324904505160856,"score_gpt":0.3754009083691086,"score_spread":0.3021518633175,"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."}}