{"id":"W2119308865","doi":"10.1097/01.asn.0000027355.41663.14","title":"Cell-Biologic and Functional Analyses of Five New Aquaporin-2 Missense Mutations that Cause Recessive Nephrogenic Diabetes Insipidus","year":2002,"lang":"en","type":"article","venue":"Journal of the American Society of Nephrology","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":120,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto; McGill University Health Centre; Université de Montréal; Hôpital du Sacré-Cœur de Montréal","funders":"Medical Research Council","keywords":"Aquaporin 2; Nephrogenic diabetes insipidus; Missense mutation; Diabetes insipidus; Biology; Endocrinology; Mutant; Genetics; Allele; Mutation; Internal medicine; Cell biology; Gene; Medicine; Water channel","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":[0.000126731,0.0003649789,0.0002064762,0.0004456454,0.0003236839,0.0002347398,0.0001916727,0.0003371937,0.0010388],"category_scores_gemma":[0.0003634544,0.0001297997,0.0003685686,0.0003044524,0.0002799327,0.0001044761,0.0002022015,0.0002720814,0.0002276879],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003091608,"about_ca_system_score_gemma":0.000173479,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001854216,"about_ca_topic_score_gemma":0.001595929,"domain_scores_codex":[0.9998141,0.00001421187,0.00002268811,0.00004544632,0.00006212226,0.00004156032],"domain_scores_gemma":[0.9997303,0.0001075637,0.00003204344,0.00002196367,0.0000304036,0.00007776437],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003047579,0.00008894769,0.01156798,0.00005874471,0.00003354942,0.01050893,0.0002347506,0.0001591465,0.9733907,0.0002072603,0.00008222371,0.003362989],"study_design_scores_gemma":[0.0002016653,0.001377971,0.2962388,0.00003159442,0.0002968672,0.09094498,0.0006456799,0.003531291,0.5944753,0.0003882486,0.01179738,0.00007017119],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984719,0.0001859987,0.0005460451,0.00001883904,0.000008869195,0.00001030663,0.0002754196,0.00000940544,0.000473086],"genre_scores_gemma":[0.9973151,0.0002282585,0.001017625,0.00003044866,0.000005795836,0.00001440805,0.0008161044,0.00001043302,0.000561789],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001854216,"threshold_uncertainty_score":0.003686905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03556753087669951,"score_gpt":0.2683143214948195,"score_spread":0.23274679061812,"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."}}