{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001820791,0.0008087758,0.0003226634,0.0009624904,0.0007379949,0.0002351069,0.0003187161,0.0009319036,0.002075481],"category_scores_gemma":[0.0009841655,0.0001984268,0.0004256041,0.000311074,0.0004359951,0.0001846706,0.0002281231,0.0004649039,0.0002930966],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000255942,"about_ca_system_score_gemma":0.0001886515,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001432353,"about_ca_topic_score_gemma":0.0009815366,"domain_scores_codex":[0.9998127,0.00002736956,0.00001909952,0.00007794512,0.00003793033,0.00002501928],"domain_scores_gemma":[0.999648,0.0001505569,0.00005814612,0.00001406189,0.00003604671,0.00009331588],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003230224,0.0001481751,0.06404631,0.00006591655,0.00005345803,0.8456415,0.001742473,0.0004278761,0.08044688,0.0004442216,0.0005149954,0.006145211],"study_design_scores_gemma":[0.00003377554,0.0004174816,0.1322798,0.00005785596,0.0001203751,0.8407805,0.0004680136,0.002271098,0.01994043,0.0003673709,0.003216908,0.00004635063],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978526,0.0002528018,0.0007889154,0.0001929407,0.0000297223,0.00001373697,0.0001610715,0.00002220941,0.0006861639],"genre_scores_gemma":[0.9987198,0.0001202963,0.0005464535,0.00009624003,0.00003883986,0.000006128526,0.0001084318,0.00001072391,0.0003530882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002075481,"threshold_uncertainty_score":0.006943226,"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."}}