{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001514725,0.0007625532,0.0002612456,0.0004687039,0.0003328266,0.0002779695,0.0002113884,0.0005447195,0.001064273],"category_scores_gemma":[0.0004807769,0.0001937312,0.0003667953,0.0003592633,0.0004746176,0.0001626055,0.0004160618,0.0004823283,0.000222325],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000187278,"about_ca_system_score_gemma":0.0001476733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005348147,"about_ca_topic_score_gemma":0.00077881,"domain_scores_codex":[0.9998455,0.00001611096,0.0000218728,0.00005111066,0.00003544274,0.00002986788],"domain_scores_gemma":[0.9997438,0.00008526439,0.00009297756,0.00001080193,0.00001264422,0.0000545742],"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":[0.0007351449,0.0001527567,0.2959507,0.0002089361,0.0002633809,0.2527717,0.001078031,0.001046483,0.4264501,0.0007956005,0.001074677,0.01947245],"study_design_scores_gemma":[0.00005196707,0.0005266207,0.5044572,0.00005227256,0.0001528993,0.4284624,0.0004010918,0.001165787,0.06099087,0.0003383159,0.003365896,0.0000347828],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982729,0.0002083275,0.0008424513,0.00004469472,0.00001084642,0.000009483124,0.0001971911,0.00003472847,0.0003793788],"genre_scores_gemma":[0.9984428,0.0001696878,0.0008835064,0.00004493296,0.000009940167,0.000006159125,0.0001816754,0.0000128007,0.0002485644],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001064273,"threshold_uncertainty_score":0.003560364,"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."}}