{"id":"W2944066289","doi":"10.1016/s0016-5085(19)37712-1","title":"Sa1645 – A New Pediatric Intestinal Pseudo-Obstruction Syndrom by Sgol1 Mutation: A Late-Onset But Severe Digestive Phenotype","year":2019,"lang":"en","type":"article","venue":"Gastroenterology","topic":"Digestive system and related health","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre hospitalier universitaire de Québec; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Phenotype; Medicine; Mutation; Intestinal pseudo-obstruction; Gastroenterology; Internal medicine; Genetics; Biology; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001287401,0.0002619318,0.0002876953,0.00008650935,0.00007961626,0.00002095347,0.0001968925,0.0002790017,0.0001247898],"category_scores_gemma":[0.00005203704,0.0002476197,0.00009542336,0.0001102226,0.00006834506,0.00001153438,0.00009860505,0.0002492226,0.0003017735],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004624352,"about_ca_system_score_gemma":0.0001542706,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001503885,"about_ca_topic_score_gemma":0.00003182841,"domain_scores_codex":[0.9982388,0.0001699862,0.0003565887,0.0005721068,0.000141309,0.0005212345],"domain_scores_gemma":[0.9991286,0.00002145091,0.0002295447,0.0002947564,0.0001123298,0.0002132616],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001179174,0.0001206074,0.9687134,0.0000872833,0.0001413527,0.00004106147,0.000130245,0.0005710595,0.01371577,0.00002032274,0.01471218,0.0005675156],"study_design_scores_gemma":[0.01020453,0.01448171,0.9543732,0.0001343374,0.0003428154,0.009201623,0.0005101022,0.0005345571,0.002318549,0.0004132245,0.006470265,0.001015107],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957589,0.0003368472,0.001544648,0.0004109072,0.0008590881,0.0003801766,0.00006735236,0.00004095699,0.0006011543],"genre_scores_gemma":[0.9944697,0.00008442307,0.0006845568,0.0004580817,0.0003403458,0.00001726024,0.0004893397,0.00003499644,0.00342129],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0143611,"threshold_uncertainty_score":0.9999976,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004713841406408452,"score_gpt":0.2172807937147057,"score_spread":0.2125669523082972,"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."}}