{"id":"W4415451234","doi":"10.1210/jendso/bvaf149.602","title":"SAT-746 Gain-of-Function CASR variants Identified as a Major Genetic Contributor of Non-Surgical Hypoparathyroidism: Findings from Over 300 Participants in a Sponsored Genetic Testing Program","year":2025,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Thyroid and Parathyroid Surgery","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Hypoparathyroidism; Genetic testing; Exome sequencing; Genetic variants; Family history; Calcium-sensing receptor; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007855549,0.0002783661,0.001005263,0.0001495447,0.0001017841,0.0000363143,0.000288256,0.0001322875,0.0000395367],"category_scores_gemma":[0.001059117,0.0002018181,0.000777532,0.0009339893,0.0001806372,0.0001016391,0.0001209443,0.0006484874,0.000006114179],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001493309,"about_ca_system_score_gemma":0.0006045128,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002354437,"about_ca_topic_score_gemma":0.00001452979,"domain_scores_codex":[0.9967498,0.0002521075,0.001530919,0.0002883421,0.0006270576,0.0005517509],"domain_scores_gemma":[0.997312,0.000921529,0.0008153882,0.0004086501,0.0003650779,0.0001773752],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00378196,0.001736271,0.5011764,0.0001593801,0.001304364,0.0008797473,0.001708385,0.0006319558,0.4698462,0.00003189006,0.0171115,0.001631938],"study_design_scores_gemma":[0.009054936,0.000604317,0.9615331,0.0005539892,0.0008512233,0.0003875862,0.000437933,0.003797934,0.02130166,0.0004993943,0.0007898629,0.0001880094],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938112,0.004038147,0.0001758565,0.0003914656,0.0007600114,0.0006575755,0.00003716414,0.00001726921,0.0001113323],"genre_scores_gemma":[0.9961455,0.000210361,0.002583891,0.000195694,0.0002898272,0.00002418254,0.000005539542,0.00002625808,0.0005186899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4603568,"threshold_uncertainty_score":0.8229905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01885907234785526,"score_gpt":0.3111186042513985,"score_spread":0.2922595319035432,"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."}}