{"id":"W4211177072","doi":"10.1210/clinem/dgac076","title":"A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner","year":2022,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Neuroendocrine regulation and behavior","field":"Psychology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital du Sacré-Cœur de Montréal","funders":"National Center for Research Resources; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Institutes of Health","keywords":"Xq28; Desmopressin; Endocrinology; Vasopressin; Internal medicine; Diabetes insipidus; Plasma osmolality; X-linked recessive inheritance; Biology; Genetics; X chromosome; 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":[0.0000775242,0.0009333547,0.000315347,0.0004587766,0.0005563754,0.0001901881,0.0003110951,0.0004202672,0.001973513],"category_scores_gemma":[0.0002291197,0.0001741678,0.0001982904,0.0004035383,0.0003752581,0.0001224087,0.0003834073,0.0003535395,0.0002054452],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002275195,"about_ca_system_score_gemma":0.0002664926,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001033672,"about_ca_topic_score_gemma":0.002052232,"domain_scores_codex":[0.9998865,0.00001090876,0.000009339455,0.0000429327,0.00002596625,0.00002432594],"domain_scores_gemma":[0.999862,0.00002813684,0.00004679567,0.000007157772,0.000009926689,0.00004604922],"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":[0.0005408866,0.0001323294,0.08467872,0.0002481938,0.0001243017,0.6993968,0.001011843,0.0002913881,0.1951628,0.000889147,0.001058858,0.01646458],"study_design_scores_gemma":[0.00008504479,0.0003903254,0.1427405,0.00002896789,0.00009625062,0.8418365,0.0002733221,0.0004217765,0.009977148,0.0002887305,0.003828598,0.00003282908],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971007,0.000361603,0.00106123,0.00009831464,0.00001713762,0.00001896971,0.0002006571,0.00003831274,0.001103119],"genre_scores_gemma":[0.9968732,0.0002693308,0.001236024,0.00004864161,0.0000255445,0.00001492805,0.0002275784,0.00001055139,0.001294196],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001973513,"threshold_uncertainty_score":0.006602049,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08879137857829075,"score_gpt":0.4053932983015923,"score_spread":0.3166019197233015,"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."}}