{"id":"W2155585542","doi":"10.1016/j.ajhg.2009.01.004","title":"Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea","year":2009,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Digestive system and related health","field":"Biochemistry, Genetics and Molecular Biology","cited_by":123,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"Austrian Science Fund","keywords":"Diarrhea; Medicine; Gastroenterology","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":[0.0001846136,0.001362665,0.0004815951,0.0007061189,0.000535849,0.0004695992,0.0004132328,0.001457545,0.001950295],"category_scores_gemma":[0.0009723248,0.0002820634,0.0005028826,0.0005762588,0.000789811,0.0002710737,0.0005829689,0.0006675101,0.0003583897],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003379356,"about_ca_system_score_gemma":0.0003563177,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001115743,"about_ca_topic_score_gemma":0.001687381,"domain_scores_codex":[0.9997777,0.00002831801,0.00003229401,0.00005438071,0.00007754581,0.00002974828],"domain_scores_gemma":[0.9992813,0.0002197558,0.0001775848,0.00003044797,0.00005784907,0.0002329022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001729832,0.0002599758,0.05619137,0.0001882572,0.0003152873,0.6174632,0.0008425039,0.001255456,0.3051663,0.002320619,0.003665837,0.01060132],"study_design_scores_gemma":[0.00069827,0.0008109066,0.1764178,0.00009878671,0.0004208531,0.71919,0.001052835,0.008218896,0.08124703,0.002168622,0.009516443,0.0001595497],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947403,0.0002904343,0.001527765,0.0005818257,0.0002153735,0.00002961429,0.0004982042,0.0001248886,0.001991554],"genre_scores_gemma":[0.9978812,0.00009612264,0.0009395943,0.00009879978,0.00007219755,0.000007719802,0.0002033087,0.00003894447,0.0006619742],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001950295,"threshold_uncertainty_score":0.006524384,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01200243071789885,"score_gpt":0.2931461174319665,"score_spread":0.2811436867140676,"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."}}