{"id":"W1826846001","doi":"10.1093/hmg/ddv367","title":"Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea","year":2015,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":134,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children; Stollery Children's Hospital; University of Alberta; Université de Sherbrooke; McGill University Health Centre","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; Landes Tirols; Times Higher Education; Johns Hopkins University; Canadian Institutes of Health Research; Else Kröner-Fresenius-Stiftung; Leona M. and Harry B. Helmsley Charitable Trust","keywords":"Missense mutation; Biology; Exome sequencing; Sodium–hydrogen antiporter; Genetics; Mutation; Molecular biology; Gene; Chemistry; Sodium","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001786077,0.0003184683,0.0002207512,0.00007852928,0.0001294169,0.00005485549,0.0002510221,0.0003129054,0.00003109605],"category_scores_gemma":[0.00002174346,0.0003430955,0.0001625155,0.0001088192,0.0001472149,0.00000733411,0.00009938155,0.0001350091,0.00003329543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003389501,"about_ca_system_score_gemma":0.0001288145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003065907,"about_ca_topic_score_gemma":0.00006298862,"domain_scores_codex":[0.9983242,0.00009211347,0.0002567636,0.0005375605,0.0003582156,0.000431178],"domain_scores_gemma":[0.9987757,0.000003167231,0.0001170837,0.0005968427,0.0002330047,0.0002741584],"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":[0.0001008107,0.0001101444,0.001506989,0.00002506386,0.00007572081,0.00002882155,0.0001851789,0.0001135238,0.9967577,0.00005692485,0.0005991816,0.0004399219],"study_design_scores_gemma":[0.001111836,0.000397041,0.006536487,0.000008605838,0.00006746243,0.00001885223,0.0000812547,0.00009419089,0.9813794,0.0003176399,0.0095292,0.0004580382],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940504,0.0009721179,0.002674802,0.00009570904,0.0003359514,0.0005537302,0.00002123189,0.00004469812,0.00125132],"genre_scores_gemma":[0.9976928,0.00006593854,0.0002907606,0.0001632816,0.0005096092,0.00009410529,0.0003943071,0.00007650333,0.0007127406],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01537833,"threshold_uncertainty_score":0.9999021,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03135445660666327,"score_gpt":0.2752647374684863,"score_spread":0.2439102808618231,"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."}}