{"id":"W1990296919","doi":"10.1074/jbc.m011742200","title":"COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II","year":2001,"lang":"en","type":"article","venue":"Journal of Biological Chemistry","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Exon; Molecular biology; Splice site mutation; Biology; Nonsense mutation; Proband; Mutation; Haploinsufficiency; Type I collagen; Intron; Exon skipping; Mutant; Genetics; RNA splicing; Chemistry; Alternative splicing; Gene; Endocrinology; RNA; Missense mutation; 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":[0.0001614456,0.001210649,0.000349345,0.001033832,0.0005698701,0.0002858849,0.0003311877,0.0006454367,0.001483499],"category_scores_gemma":[0.0005883242,0.0003723421,0.0003574918,0.000261921,0.0005482986,0.0001263496,0.0003242268,0.0003768457,0.0002789228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003343121,"about_ca_system_score_gemma":0.0001728171,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001681946,"about_ca_topic_score_gemma":0.001725369,"domain_scores_codex":[0.9997746,0.00003282124,0.00003363863,0.00007077059,0.00005360095,0.00003456815],"domain_scores_gemma":[0.9997323,0.00008972744,0.00007050252,0.00001493641,0.00001965659,0.00007276994],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006335328,0.0003039669,0.1299188,0.0001051913,0.0002057107,0.1404415,0.001760533,0.0006727657,0.7149251,0.0003648898,0.000273048,0.01039498],"study_design_scores_gemma":[0.0001653599,0.001695648,0.5115615,0.00006057753,0.0003904388,0.3835832,0.0009570628,0.002315128,0.09489709,0.0004326997,0.003854956,0.00008623116],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994229,0.00006548788,0.0002509237,0.00001504448,0.000002370614,0.000006074394,0.00004056192,0.00001162131,0.000185071],"genre_scores_gemma":[0.9987491,0.0000801215,0.0004753126,0.0000238968,0.000006562657,0.000009675199,0.0001195702,0.00001090723,0.000524789],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001681946,"threshold_uncertainty_score":0.004962802,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03029889710841453,"score_gpt":0.28369154866251,"score_spread":0.2533926515540955,"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."}}