{"id":"W2144213974","doi":"10.1093/ndt/gfn386","title":"Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion","year":2008,"lang":"en","type":"article","venue":"Nephrology Dialysis Transplantation","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":107,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital","funders":"","keywords":"Pedigree chart; Endocrinology; Internal medicine; Medicine; Aldosterone; Plasma renin activity; Renin–angiotensin system; Compound heterozygosity; Natriuresis; Mutation; Kidney; Genetics; Biology; Gene; Blood pressure","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001099957,0.0001134126,0.000250475,0.0001103914,0.00003920785,0.000001045304,0.00009183749,0.0001532336,0.0001012445],"category_scores_gemma":[0.00002908247,0.0001218006,0.0001041956,0.0001348558,0.0004358397,0.00001810613,0.000008840668,0.00003894631,4.742643e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004594816,"about_ca_system_score_gemma":0.00005686659,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007728014,"about_ca_topic_score_gemma":0.0001171371,"domain_scores_codex":[0.9987914,0.0001082752,0.0005374267,0.0002381232,0.0002183123,0.0001064731],"domain_scores_gemma":[0.9990994,0.00007668449,0.0003956763,0.0001592434,0.0002392432,0.00002978241],"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":[0.0007259253,0.0001108872,0.1227344,0.0004223639,0.0001246314,0.000003300335,0.0002918301,0.00272685,0.8725815,0.00002365468,0.000008349338,0.0002462206],"study_design_scores_gemma":[0.0004701325,0.0003922764,0.6538501,0.00006979261,0.0002259686,0.00003311192,0.000007096917,0.0001423688,0.3446688,0.00006699103,0.000005897157,0.0000674094],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9842409,0.0004920229,0.01420611,0.00002493144,0.00003297749,0.0001750634,0.0008212833,0.000004148907,0.000002549961],"genre_scores_gemma":[0.9938827,0.003198475,0.001702987,0.00001237094,0.00004922127,0.00002299169,0.001113424,0.000008745476,0.000009137757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5311157,"threshold_uncertainty_score":0.4966885,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01490627438558323,"score_gpt":0.2320047985945086,"score_spread":0.2170985242089254,"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."}}