{"id":"W2075701647","doi":"10.1210/jcem.87.6.8617","title":"Two Novel Aquaporin-2 Mutations Responsible for Congenital Nephrogenic Diabetes Insipidus in Chinese Families","year":2002,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital du Sacré-Cœur de Montréal","funders":"","keywords":"Aquaporin 2; Nephrogenic diabetes insipidus; Endocrinology; Internal medicine; Vasopressin; Diabetes insipidus; Arginine vasopressin receptor 2; Biology; Compound heterozygosity; Point mutation; Medicine; Mutation; Receptor; Gene; Genetics; 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":[0.0002208795,0.001701669,0.0006066357,0.001518629,0.001442775,0.0003685573,0.0007246207,0.001157974,0.003309104],"category_scores_gemma":[0.001105434,0.0005077469,0.0007001311,0.001087048,0.001047726,0.0002941108,0.0007562065,0.0006948605,0.0003100892],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008948841,"about_ca_system_score_gemma":0.001013381,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01104776,"about_ca_topic_score_gemma":0.008618098,"domain_scores_codex":[0.9995764,0.00003290442,0.00004839492,0.0001436389,0.0001006489,0.00009802006],"domain_scores_gemma":[0.9994069,0.0001935369,0.0001038991,0.00002940193,0.00004617956,0.000220046],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005708451,0.000290927,0.05644022,0.0001809992,0.0001701263,0.8156096,0.004262824,0.0003493492,0.1047838,0.001211394,0.0006857197,0.01544415],"study_design_scores_gemma":[0.0003261457,0.0005529156,0.292319,0.00006333003,0.000296614,0.6794503,0.0009867753,0.001375151,0.01934534,0.0009595999,0.004139852,0.0001849094],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977049,0.0002045108,0.0006407026,0.0001853782,0.00003521407,0.00004623045,0.0001508754,0.00003068319,0.001001394],"genre_scores_gemma":[0.9975337,0.0001826916,0.0008412344,0.0001427511,0.00004054614,0.00003159493,0.0001773207,0.000021469,0.001028754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01104776,"threshold_uncertainty_score":0.02196687,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04022762172560373,"score_gpt":0.3408182179636906,"score_spread":0.3005905962380869,"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."}}