{"id":"W4224316736","doi":"10.3389/fgene.2022.857095","title":"Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome","year":2022,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Natural Science Foundation of China","keywords":"RNA splicing; Genetics; Exon; Intron; Minigene; Fibrillin; Biology; Exon skipping; Gene; Marfan syndrome; Exome; Exome sequencing; Alternative splicing; Mutation; 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":[0.00036778,0.0001407254,0.0002869442,0.0004708371,0.00005379745,0.000008676879,0.0002962719,0.0000713325,0.0001878869],"category_scores_gemma":[0.00002080932,0.000155634,0.00008050342,0.00120933,0.00008824436,0.000003245277,0.0001721494,0.0001819065,6.724293e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001123283,"about_ca_system_score_gemma":0.0002202729,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001204811,"about_ca_topic_score_gemma":0.0006695376,"domain_scores_codex":[0.998374,0.0002624577,0.0002649555,0.0004588738,0.0003327004,0.0003070048],"domain_scores_gemma":[0.9993468,0.00000880658,0.0000671537,0.0004538842,0.00006344226,0.00005989171],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001947931,0.001140396,0.4478347,0.00003482209,0.001933711,0.0003586006,0.000471526,0.3551692,0.1611685,0.00002818693,0.0006328141,0.02927949],"study_design_scores_gemma":[0.002107704,0.002059486,0.9537842,0.000004360395,0.0002256914,0.0000624226,0.00162601,0.03532584,0.002110631,0.0001523063,0.002152342,0.0003890399],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882355,0.00371692,0.00745276,0.00002900617,0.00008987457,0.0002673143,0.0001182856,0.000003636746,0.00008670487],"genre_scores_gemma":[0.9932193,0.0002346313,0.005544221,0.00004474597,0.00001431157,0.0001134251,0.0005613039,0.00002521286,0.0002428516],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5059494,"threshold_uncertainty_score":0.6346568,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00890504250149763,"score_gpt":0.2345943718201924,"score_spread":0.2256893293186947,"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."}}