{"id":"W2086251643","doi":"10.1053/j.gastro.2014.01.015","title":"Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease","year":2014,"lang":"en","type":"article","venue":"Gastroenterology","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":207,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Stollery Children's Hospital; Hospital for Sick Children; University of Toronto","funders":"National Center for Advancing Translational Sciences; National Center for Research Resources; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institute of Allergy and Infectious Diseases; Canadian Institutes of Health Research; Wellcome Trust","keywords":"Enterocolitis; Tetratricopeptide; Mutation; Compound heterozygosity; Biology; Missense mutation; Exome sequencing; Genetics; Gene; Cancer research; Medicine; Internal medicine","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":[0.0002914587,0.001627906,0.0007069349,0.000755181,0.0004667123,0.000398099,0.0004115288,0.001125269,0.001269267],"category_scores_gemma":[0.001221911,0.0003256177,0.0005630541,0.0004376654,0.001103668,0.0002763865,0.0007525033,0.0009978433,0.000443161],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002516929,"about_ca_system_score_gemma":0.000228997,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005639075,"about_ca_topic_score_gemma":0.0008815713,"domain_scores_codex":[0.9996179,0.00009796646,0.00005733991,0.00006422702,0.0001074864,0.00005499258],"domain_scores_gemma":[0.998928,0.0003586974,0.0002955646,0.00004899676,0.00005600085,0.0003127966],"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":[0.002610104,0.0003131671,0.0331455,0.0002371964,0.0003305652,0.3578152,0.0005427629,0.001157374,0.5876982,0.001718638,0.001605429,0.0128258],"study_design_scores_gemma":[0.0003745063,0.001722473,0.3185133,0.00008839433,0.0004510211,0.5977485,0.0005541452,0.003411129,0.06896511,0.001651058,0.006367958,0.0001524079],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941183,0.0006298045,0.002429367,0.0002855506,0.0001170983,0.00003299972,0.0003617746,0.0001180322,0.001907122],"genre_scores_gemma":[0.997384,0.0001834326,0.001320854,0.00008939749,0.00005427364,0.000007792291,0.000219011,0.00003308615,0.0007082219],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001627906,"threshold_uncertainty_score":0.004246175,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003909754176941143,"score_gpt":0.1981074952564506,"score_spread":0.1941977410795095,"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."}}