{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001115383,0.0005395591,0.0002714684,0.0004359484,0.0002178412,0.0001548293,0.0001921841,0.0003378333,0.001408964],"category_scores_gemma":[0.0004939836,0.0001631178,0.0002352695,0.0004621201,0.0004311306,0.0001132976,0.0003378135,0.0002705878,0.0002078742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002561686,"about_ca_system_score_gemma":0.0001607103,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001084769,"about_ca_topic_score_gemma":0.00115416,"domain_scores_codex":[0.9998329,0.00002606146,0.00002626906,0.0000574801,0.00003328026,0.00002407897],"domain_scores_gemma":[0.9997525,0.00007829079,0.0000851124,0.00001717671,0.00001752178,0.00004941238],"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":[0.0009642203,0.00007308848,0.1925352,0.0003255661,0.0001715374,0.046427,0.0003803553,0.0003449683,0.7432406,0.0003082749,0.0006289398,0.01460024],"study_design_scores_gemma":[0.0001079592,0.0004011648,0.7529711,0.00004477851,0.0002128432,0.1432701,0.0002526177,0.001025594,0.09835424,0.000302569,0.003029138,0.00002781212],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985579,0.0003984111,0.000435384,0.00003054521,0.000005269891,0.000005278351,0.0002102851,0.00003220334,0.000324886],"genre_scores_gemma":[0.9990523,0.0002854575,0.0003023132,0.00002606384,0.000005414351,0.000002542304,0.0001933015,0.000008323175,0.0001242847],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001408964,"threshold_uncertainty_score":0.004713476,"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."}}