{"id":"W2035664370","doi":"10.1053/ajkd.2002.31993","title":"Intrafamilial phenotype variability in nephrogenic diabetes insipidus","year":2002,"lang":"en","type":"article","venue":"American Journal of Kidney Diseases","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Hôpital du Sacré-Cœur de Montréal","funders":"","keywords":"Nephrogenic diabetes insipidus; Arginine vasopressin receptor 2; Medicine; Vasopressin; Endocrinology; Internal medicine; Proband; Phenotype; Arginine; Antidiuretic; Mutation; Genetics; Biology; Receptor; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001418632,0.0001076342,0.0001996388,0.00006586786,0.00002675174,0.000009742166,0.0001368837,0.00003646682,0.00008977075],"category_scores_gemma":[0.000406806,0.00009617546,0.0001359812,0.0001704867,0.0001707929,0.000009610234,0.00001426977,0.00007657259,0.000003319905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001905206,"about_ca_system_score_gemma":0.0001173539,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006700572,"about_ca_topic_score_gemma":0.000002365519,"domain_scores_codex":[0.9991301,0.0001089117,0.0003054947,0.0001371242,0.0001421066,0.0001762155],"domain_scores_gemma":[0.9992219,0.00001865238,0.00018975,0.0001462811,0.00009184935,0.0003315197],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006082595,0.00118382,0.707234,0.00005548416,0.0002571948,0.00002893667,0.0003333238,0.0004225265,0.1729858,0.00006227902,0.01096856,0.1058598],"study_design_scores_gemma":[0.005260306,0.004481741,0.8631531,0.0002014139,0.0004793234,0.00004487115,0.0008124735,0.00164031,0.06220135,0.00154169,0.05893212,0.001251318],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985284,0.0004309973,0.0002072566,0.0004592274,0.0001645302,0.00005118769,0.00002631317,0.000004138811,0.0001279255],"genre_scores_gemma":[0.9982439,0.0001909456,0.0001488617,0.0009381439,0.000411214,0.000002564533,0.0000304714,0.00001188769,0.00002199962],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.155919,"threshold_uncertainty_score":0.3921922,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004410388965618222,"score_gpt":0.1989186192181799,"score_spread":0.1945082302525617,"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."}}