{"id":"W3159162884","doi":"10.1210/jendso/bvab048.383","title":"Delayed Diagnosis of Congenital Hypoparathyroidism in a Kindred of Three Patients With Autosomal Dominant Deafness","year":2021,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Hypoparathyroidism; Medicine; Renal dysplasia; Internal medicine; GATA3; Hearing loss; Endocrinology; Kidney; Pathology; Gynecology; Genetics; Biology; 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":[0.0003919373,0.001588242,0.0006191027,0.002174468,0.001830369,0.0007554204,0.000871168,0.001469736,0.002626792],"category_scores_gemma":[0.003340103,0.0008136205,0.0007146465,0.000702051,0.001127054,0.0005964686,0.001152649,0.000915441,0.0004178139],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009656984,"about_ca_system_score_gemma":0.0007884319,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003038865,"about_ca_topic_score_gemma":0.002570315,"domain_scores_codex":[0.9994037,0.0000660934,0.00007924109,0.0001713643,0.0001191007,0.0001605126],"domain_scores_gemma":[0.9983534,0.0004896388,0.0003099754,0.00008712642,0.0001625642,0.0005973291],"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":[0.0001042793,0.00007142442,0.118974,0.00003260575,0.0000228626,0.8739262,0.001168242,0.0000789059,0.003164252,0.0001272795,0.0002411101,0.002088743],"study_design_scores_gemma":[0.00001970871,0.0001401402,0.06717481,0.00001490628,0.00002640543,0.9304113,0.0004726811,0.0001914838,0.0007765311,0.00009937157,0.0006479432,0.00002475498],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980456,0.0002741121,0.0002951898,0.0002288439,0.00003037203,0.00002674123,0.00008356743,0.00002205337,0.0009937183],"genre_scores_gemma":[0.9991044,0.0001051914,0.0002699885,0.00009536147,0.00003929473,0.00001079372,0.00006129341,0.000008564846,0.0003051803],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003038865,"threshold_uncertainty_score":0.008787572,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008314653204272413,"score_gpt":0.2489460123386006,"score_spread":0.2406313591343282,"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."}}