{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002766315,0.0001583253,0.0002762289,0.00006252637,0.00005666199,0.00001112041,0.0001917102,0.0002395943,0.0003096205],"category_scores_gemma":[0.0004716579,0.0001320732,0.00011569,0.0001409027,0.0002199493,0.00001570638,0.0001695426,0.0002455733,0.000001518055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004386987,"about_ca_system_score_gemma":0.00009168682,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001361027,"about_ca_topic_score_gemma":0.00001144689,"domain_scores_codex":[0.9987696,0.00006457116,0.0004510594,0.0002577851,0.0002106937,0.0002462505],"domain_scores_gemma":[0.999246,0.00005516982,0.0002451149,0.0001184529,0.0002265082,0.0001087736],"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":[0.001033226,0.0003249019,0.02037385,0.00005355025,0.00006049352,0.0001165106,0.00006515861,0.0001228219,0.9768671,0.000002757726,0.0001805915,0.0007990319],"study_design_scores_gemma":[0.004451437,0.0053182,0.2704864,0.0001497868,0.00003661084,0.005276648,0.001321214,0.000180859,0.7089016,0.0001424986,0.003185572,0.0005490785],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997728,0.001284078,0.0003818604,0.00011344,0.00004783085,0.0001192998,0.00001472327,0.000003961187,0.0003068291],"genre_scores_gemma":[0.9990638,0.0004798784,0.0001209661,0.0000351388,0.0001319948,0.000007197463,0.00003883796,0.000008594421,0.0001135853],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2679654,"threshold_uncertainty_score":0.5385789,"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."}}