{"id":"W1601890219","doi":"10.1016/j.jcmgh.2015.05.001","title":"Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia","year":2015,"lang":"en","type":"article","venue":"Cellular and Molecular Gastroenterology and Hepatology","topic":"Caveolin-1 and cellular processes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; SickKids Foundation","funders":"National Heart, Lung, and Blood Institute; Crohn's and Colitis Canada; Hospital for Sick Children; Canadian Association of Gastroenterology; National Cancer Institute; National Institutes of Health; Canadian Institutes of Health Research; Leona M. and Harry B. Helmsley Charitable Trust","keywords":"Hypoproteinemia; Hypoalbuminemia; Protein losing enteropathy; Exome sequencing; Enteropathy; Biology; Frameshift mutation; Exome; Lymphocytopenia; Pathology; Medicine; Genetics; Internal medicine; Molecular biology; Mutation; Gene; Disease","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0005010117,0.0003395801,0.0005158709,0.0001766013,0.00008444615,0.00003902853,0.0001335164,0.0004324945,0.000003283176],"category_scores_gemma":[0.0002265974,0.0003669576,0.00005203175,0.0001178675,0.0003501791,0.0000233683,0.0002238493,0.0003572353,0.000001421053],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000324231,"about_ca_system_score_gemma":0.00007735854,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001304052,"about_ca_topic_score_gemma":0.0003191868,"domain_scores_codex":[0.9976409,0.0003603154,0.0005250706,0.0007598021,0.0001137531,0.0006001472],"domain_scores_gemma":[0.9992777,0.00001707062,0.0001838213,0.0002221191,0.00007424422,0.0002250141],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000872128,0.0001437416,0.09424873,0.00007189603,0.0000371405,0.0002361361,0.0001279898,0.000002180166,0.9036716,0.00002689689,0.00002788871,0.0005336676],"study_design_scores_gemma":[0.01561541,0.002743792,0.00829767,0.0002195296,0.00009892489,0.0007630012,0.000425391,0.0008200244,0.9663838,0.0006197163,0.003208006,0.0008047215],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934913,0.003680974,0.001407784,0.0004934255,0.00004673324,0.0007807409,0.00002827131,0.00001831553,0.00005243648],"genre_scores_gemma":[0.9982718,0.0001579281,0.0003376527,0.0004790965,0.00003893364,0.0002445069,0.0003167202,0.00003849408,0.0001148553],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08595107,"threshold_uncertainty_score":0.9998782,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008313878505344674,"score_gpt":0.2101275867002072,"score_spread":0.2018137081948625,"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."}}