{"id":"W4409786543","doi":"10.70962/cis2025abstract.167","title":"OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant","year":2025,"lang":"en","type":"article","venue":"Journal of Human Immunity","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital","funders":"","keywords":"Haploinsufficiency; splice; Computational biology; Genetics; Biology; Gene; Phenotype","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":[0.0001419052,0.001375114,0.0005841873,0.0009660425,0.0005795347,0.0004596236,0.0004398429,0.001269832,0.002370737],"category_scores_gemma":[0.0006153599,0.0001926189,0.0003850787,0.0005978805,0.0008052813,0.0001670053,0.0004390125,0.0005471282,0.0005399545],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003405165,"about_ca_system_score_gemma":0.00025574,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008390992,"about_ca_topic_score_gemma":0.001061239,"domain_scores_codex":[0.9997613,0.0000216129,0.00003253993,0.00008060619,0.00005297896,0.00005095597],"domain_scores_gemma":[0.9995241,0.0001553494,0.0001468422,0.00002012155,0.00002718557,0.0001264487],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000392135,0.00005301319,0.01272954,0.00008657191,0.00006124273,0.8790288,0.0002337092,0.000287194,0.09930786,0.0007394205,0.0004960982,0.006584418],"study_design_scores_gemma":[0.00007248389,0.0003702666,0.05940871,0.00005592,0.0001620346,0.897903,0.0002111699,0.001590279,0.03485908,0.000575828,0.004740396,0.00005094745],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994138,0.0009175098,0.001966461,0.0002976712,0.0001306049,0.00004670508,0.0005722502,0.0001406799,0.001790093],"genre_scores_gemma":[0.9977023,0.000232563,0.000776215,0.0001292538,0.00007575459,0.000009145754,0.0002129133,0.00003634519,0.0008253685],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002370737,"threshold_uncertainty_score":0.007930934,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01658407063320104,"score_gpt":0.3156544790372016,"score_spread":0.2990704084040005,"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."}}