{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005806059,0.0006081432,0.0005803586,0.002202371,0.0006629046,0.0004156584,0.0004937566,0.0004748989,0.006317782],"category_scores_gemma":[0.002100911,0.0002810232,0.0004360519,0.00105897,0.0004593129,0.0002255434,0.0006909398,0.0006701755,0.0005516456],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001890305,"about_ca_system_score_gemma":0.0001641416,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007175058,"about_ca_topic_score_gemma":0.000793031,"domain_scores_codex":[0.9990995,0.0002674792,0.0001170818,0.0002495842,0.0001718704,0.00009453979],"domain_scores_gemma":[0.9971213,0.001651683,0.0005003319,0.0002494561,0.0001936095,0.000283676],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002778673,0.0002929242,0.3852223,0.0001726335,0.0004520077,0.02213043,0.002856006,0.0006485743,0.5514365,0.001110768,0.0006321197,0.03226721],"study_design_scores_gemma":[0.00003512687,0.0002930439,0.9314272,0.00004309708,0.0002624668,0.04471355,0.0006272412,0.0007081448,0.01978066,0.000419953,0.001636821,0.00005253667],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997769,0.0001360376,0.0005906679,0.00004148631,0.000007647427,0.000004282358,0.0003324786,0.00002506271,0.001093387],"genre_scores_gemma":[0.9985523,0.0001140505,0.0004274533,0.00002208477,0.000008873445,0.000008903163,0.0002602595,0.00005737057,0.0005487764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006317782,"threshold_uncertainty_score":0.02113515,"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."}}