{"id":"W3153426214","doi":"10.1093/ecco-jcc/jjab077","title":"Variants in <i>STXBP3</i> are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation","year":2021,"lang":"en","type":"article","venue":"Journal of Crohn s and Colitis","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Perelman School of Medicine, University of Pennsylvania; National Institutes of Health; Sir Jules Thorn Charitable Trust; Institute for Translational Medicine and Therapeutics; Harvard Digestive Diseases Center, Harvard University; JPB Foundation; Leona M. and Harry B. Helmsley Charitable Trust; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; University of Pennsylvania; Boston Children's Hospital; AGA Research Foundation; New York Stem Cell Foundation; Howard Hughes Medical Institute; Richard and Susan Smith Family Foundation; Damon Runyon Cancer Research Foundation","keywords":"Medicine; Inflammatory bowel disease; Immune dysregulation; Sensorineural hearing loss; Immune system; Hearing loss; Disease; Immunology; Audiology; Gastroenterology; Internal medicine","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":[0.000254582,0.001556939,0.0004296207,0.0007612177,0.0006319324,0.0003642862,0.0003942496,0.001114212,0.002310975],"category_scores_gemma":[0.0008819372,0.0002868557,0.0005527568,0.0007269769,0.0007195371,0.0001980418,0.0004412336,0.0006846374,0.0002481797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002317156,"about_ca_system_score_gemma":0.0001854031,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001344512,"about_ca_topic_score_gemma":0.001553549,"domain_scores_codex":[0.99972,0.00004833601,0.00003717746,0.00008873243,0.00005284129,0.00005286982],"domain_scores_gemma":[0.9992877,0.0001876223,0.0003023668,0.00002643569,0.00003472232,0.0001613093],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002888541,0.0002720795,0.5309457,0.000247315,0.0004811531,0.2901631,0.001107882,0.0007274332,0.1614964,0.0006268947,0.001155631,0.009887914],"study_design_scores_gemma":[0.0001157314,0.0005352426,0.6687746,0.00008022676,0.000224765,0.3203459,0.0003162915,0.0007839115,0.007344263,0.000324884,0.001111617,0.00004253398],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983402,0.0002017358,0.0005062193,0.00009006159,0.00001318867,0.0000184337,0.0001833159,0.00002142354,0.000625296],"genre_scores_gemma":[0.9990539,0.0000800046,0.0004495665,0.00007440384,0.00002422633,0.000006984766,0.0001462533,0.000009282355,0.0001554177],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002310975,"threshold_uncertainty_score":0.007730961,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005734074039573676,"score_gpt":0.1967995320744683,"score_spread":0.1910654580348947,"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."}}