{"id":"W2152090260","doi":"10.1093/hmg/ddr094","title":"PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa","year":2011,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":156,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke; Hospital for Sick Children","funders":"National Eye Institute; Canadian Institutes of Health Research; Université de Lausanne; Research to Prevent Blindness; National Science Foundation; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Spliceosome; Retinitis pigmentosa; RNA splicing; Biology; Intron; Genetics; Ribonucleoprotein; Mutation; Cell biology; Alternative splicing; Retinal degeneration; Exon; Gene; RNA","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001419438,0.0001895437,0.0001853818,0.0001561055,0.00008710167,0.00003758121,0.0001193486,0.0001153355,0.000006273443],"category_scores_gemma":[0.00004476309,0.0001752577,0.00002636852,0.0001955566,0.00007739203,0.00001249592,0.00007557644,0.0001337334,9.006555e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004152002,"about_ca_system_score_gemma":0.00003609034,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000913601,"about_ca_topic_score_gemma":0.001820612,"domain_scores_codex":[0.9986796,0.0001256283,0.0002522614,0.0003342589,0.000240137,0.0003681156],"domain_scores_gemma":[0.9993666,0.000006867537,0.0001438701,0.0002625934,0.0001170315,0.0001030609],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002276818,0.0002313996,0.7439326,0.00004141839,0.00005413901,0.00006560199,0.000547618,0.0004013837,0.254095,0.00006937217,0.00001090941,0.0003229436],"study_design_scores_gemma":[0.003234098,0.0008204565,0.9473534,0.0001416898,0.00002196053,0.000003633198,0.00008361226,0.0002670684,0.0477207,0.00008800846,0.00001026373,0.0002551441],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982381,0.0002041823,0.0006358621,0.000007151775,0.000007421952,0.0006042858,0.00001127204,0.00001008368,0.000281623],"genre_scores_gemma":[0.9984384,0.00004282133,0.0009929592,0.00008087832,0.00001027548,0.0000628151,0.0002796243,0.00003758198,0.00005467985],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2063743,"threshold_uncertainty_score":0.7146802,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0140849985859838,"score_gpt":0.237799793475817,"score_spread":0.2237147948898332,"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."}}