{"id":"W2100647272","doi":"10.1093/ndtplus/sfq158","title":"A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus","year":2010,"lang":"en","type":"article","venue":"Clinical Kidney Journal","topic":"Biomedical Research and Pathophysiology","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôpital du Sacré-Cœur de Montréal","funders":"","keywords":"Nephrogenic diabetes insipidus; Missense mutation; Medicine; Polyuria; Arginine vasopressin receptor 2; Diabetes insipidus; Endocrinology; Internal medicine; Failure to thrive; Urine osmolality; Vasopressin; Mutation; Pediatrics; Genetics; Diabetes mellitus; Receptor; Gene; Biology","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":[0.0002898551,0.001602881,0.0008826744,0.001061402,0.00107011,0.0007390949,0.0009631807,0.002695884,0.001577408],"category_scores_gemma":[0.002329255,0.0008004031,0.0006756732,0.000864724,0.001384857,0.0007236821,0.00111668,0.001669806,0.0004276115],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005269628,"about_ca_system_score_gemma":0.0005056464,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008941023,"about_ca_topic_score_gemma":0.001189478,"domain_scores_codex":[0.9993747,0.00005556938,0.00006261958,0.0001756736,0.0001673165,0.0001642062],"domain_scores_gemma":[0.9980893,0.0006517535,0.0005165532,0.0000918016,0.00007829758,0.0005724379],"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":[0.00002027966,0.00001399847,0.00351204,0.00002431592,0.000007659417,0.9927071,0.00009746599,0.00005226221,0.002601916,0.0001057224,0.00008999219,0.0007672076],"study_design_scores_gemma":[0.00001117727,0.00004410289,0.004132343,0.000003868031,0.000008472214,0.9947647,0.00003104524,0.0001172818,0.0006362053,0.00006018816,0.0001851299,0.000005465828],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929843,0.001148794,0.002346596,0.00079527,0.0001769254,0.00003703341,0.0001427398,0.0000999475,0.002268397],"genre_scores_gemma":[0.9975716,0.0002858252,0.001217221,0.0001809027,0.0002140252,0.00001175172,0.000044991,0.00001768698,0.000455939],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002695884,"threshold_uncertainty_score":0.005276978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03351637333465563,"score_gpt":0.3684735339750805,"score_spread":0.3349571606404249,"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."}}