{"id":"W4409785843","doi":"10.70962/cis2025abstract.150","title":"X-MAID Disease Caused by a Novel Synonymous MSN Variant that Disrupts mRNA Splicing","year":2025,"lang":"en","type":"article","venue":"Journal of Human Immunity","topic":"Eosinophilic Disorders and Syndromes","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Children's Hospital","funders":"","keywords":"RNA splicing; Messenger RNA; Disease; Biology; Nonsense-mediated decay; Alternative splicing; Genetics; Gene; Computational biology; Cancer research; RNA; Medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005761058,0.0002112315,0.0005889903,0.0002723891,0.0003382449,0.00007206747,0.0002897043,0.00008004089,0.0001954349],"category_scores_gemma":[0.000198217,0.0001660917,0.0002840183,0.0002067811,0.0001186383,0.0001818152,0.0001007726,0.0006875446,0.000005589124],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001342389,"about_ca_system_score_gemma":0.000264918,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002357473,"about_ca_topic_score_gemma":0.00002958198,"domain_scores_codex":[0.9984932,0.00008452143,0.0005886827,0.0001434221,0.0004023967,0.0002877982],"domain_scores_gemma":[0.9986735,0.0001004303,0.000300046,0.0004801125,0.0001755876,0.0002703104],"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":[0.003870567,0.0218496,0.2087432,0.003154119,0.005855943,0.007759673,0.00851473,0.0001046644,0.5975506,0.01249283,0.1160362,0.0140679],"study_design_scores_gemma":[0.01527074,0.001862313,0.9550973,0.0037966,0.002053331,0.001068611,0.002896842,0.0002323865,0.00285662,0.003058924,0.0111074,0.0006989613],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911079,0.002152298,0.0004586811,0.00214792,0.0002957273,0.000206155,0.00001872652,0.00002331052,0.003589306],"genre_scores_gemma":[0.9950815,0.0001523629,0.00009787043,0.000772486,0.00007223227,0.000003017437,0.00001522863,0.00002224612,0.003783053],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.746354,"threshold_uncertainty_score":0.6773024,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02234111088826023,"score_gpt":0.300510622085562,"score_spread":0.2781695111973017,"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."}}