{"id":"W2167257955","doi":"10.1152/ajprenal.90589.2008","title":"Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype","year":2009,"lang":"en","type":"article","venue":"American Journal of Physiology-Renal Physiology","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"U.S. National Library of Medicine; Canada Research Chairs","keywords":"Aquaporin 2; Nephrogenic diabetes insipidus; Reabsorption; Endocrinology; Internal medicine; Polyuria; Aquaporin; Polydipsia; Water channel; Chemistry; Compound heterozygosity; Western blot; Biology; Diabetes insipidus; Kidney; Medicine; Phenotype; Cell biology; Genetics; Diabetes mellitus; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001515913,0.0001564949,0.0005116914,0.000120236,0.00004516763,0.000002184131,0.0001442139,0.00009384433,0.000007648083],"category_scores_gemma":[0.00004579582,0.0001374463,0.0001779818,0.0001793408,0.0004120311,0.00001666578,0.0000158416,0.00008576302,2.746611e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007422549,"about_ca_system_score_gemma":0.0001237264,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002534683,"about_ca_topic_score_gemma":0.000003551537,"domain_scores_codex":[0.9988396,0.00009289507,0.000573848,0.0002108904,0.00008069654,0.0002020952],"domain_scores_gemma":[0.9983119,0.00004678881,0.001061765,0.0001762173,0.0003431095,0.00006022318],"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":[0.001195402,0.0001108538,0.0006913343,0.00002732274,0.0001269506,1.522513e-7,0.0001073238,0.0001666968,0.9956301,0.0001975175,0.00002689079,0.00171941],"study_design_scores_gemma":[0.0006575532,0.003514134,0.2992775,0.00002620686,0.0000634919,0.000003810638,0.00008086551,0.00005252712,0.6934849,0.002533801,0.0001906943,0.0001145861],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989648,0.0002376218,0.0003446121,0.0001763472,0.00008265401,0.0001399448,0.00004483446,0.000003313774,0.000005901142],"genre_scores_gemma":[0.9981327,0.0001692107,0.0008991738,0.0002412851,0.000278117,0.000005896492,0.0002495315,0.00001330675,0.00001074913],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3021452,"threshold_uncertainty_score":0.5604899,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006708727762950761,"score_gpt":0.2354306401907003,"score_spread":0.2287219124277496,"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."}}