{"id":"W4376867676","doi":"10.21203/rs.3.rs-2907194/v1","title":"Biallelic variants of the first Kunitz domain of SPINT2 cause none syndromic form of congenital diarrhea and tufting enteropathy","year":2023,"lang":"en","type":"preprint","venue":"Research Square","topic":"Celiac Disease Research and Management","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal Ottawa Mental Health Centre","funders":"","keywords":"Enteropathy; Diarrhea; Medicine; Missense mutation; Pathological; Phenotype; Mutation; Gastroenterology; Pediatrics; Internal medicine; Biology; Genetics; Gene; Disease","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":[0.00009467653,0.0006229402,0.0002425279,0.0004921019,0.0003446437,0.0003053894,0.0001484871,0.0005968058,0.003161211],"category_scores_gemma":[0.0005607041,0.0001615946,0.0001946119,0.0003318188,0.0003135608,0.0001920004,0.0003547556,0.0003496079,0.0005791669],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001557671,"about_ca_system_score_gemma":0.0001285063,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004142409,"about_ca_topic_score_gemma":0.0005933501,"domain_scores_codex":[0.9998528,0.00002052972,0.00002005234,0.00004016927,0.00002986761,0.0000365768],"domain_scores_gemma":[0.9996777,0.00007393519,0.00009913976,0.00001649794,0.00001983461,0.0001130482],"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":[0.00171261,0.0002214307,0.2519014,0.0002124297,0.0001547421,0.4331886,0.0007128515,0.0001865224,0.2903849,0.0005128076,0.002201119,0.01861077],"study_design_scores_gemma":[0.0001015937,0.0005411293,0.337734,0.00004203888,0.0001042365,0.6233611,0.000495995,0.0006049302,0.03187153,0.0002337263,0.004883369,0.00002653567],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977324,0.0004435805,0.0004201038,0.0001185564,0.00002467762,0.000007257995,0.0002074196,0.00002741988,0.001018548],"genre_scores_gemma":[0.9987502,0.0001471858,0.0002763835,0.00003065295,0.00003309289,0.000003291316,0.0002197232,0.000009515313,0.0005299965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003161211,"threshold_uncertainty_score":0.01057535,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07301077019528408,"score_gpt":0.3748448963140666,"score_spread":0.3018341261187825,"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."}}