{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002823704,0.001665336,0.0006127044,0.001673991,0.0006448557,0.0004235905,0.0003749904,0.0009609662,0.002302671],"category_scores_gemma":[0.001138954,0.0007777631,0.0004436708,0.001021511,0.0009118367,0.0003787276,0.0005086355,0.0005709874,0.0004568646],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000188558,"about_ca_system_score_gemma":0.0001893189,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008945743,"about_ca_topic_score_gemma":0.0009538893,"domain_scores_codex":[0.999529,0.00007773744,0.00007239447,0.0001643976,0.00009931361,0.00005721885],"domain_scores_gemma":[0.9993973,0.000115174,0.0002852036,0.0000618469,0.00003796606,0.0001024354],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002977801,0.0005991827,0.5357746,0.0004802164,0.0007053696,0.2381342,0.00170871,0.001607756,0.1744255,0.001045594,0.00154453,0.04099652],"study_design_scores_gemma":[0.0001333451,0.0009343513,0.5336673,0.00005955656,0.0003233469,0.4515602,0.0002885039,0.0009752718,0.01015214,0.0005243,0.001336084,0.00004558528],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978588,0.0004907923,0.0005711186,0.00009479439,0.00001196265,0.00001867422,0.0001145073,0.0001031749,0.0007360576],"genre_scores_gemma":[0.9990521,0.0002011446,0.0003058513,0.00003759706,0.00001742529,0.000009051269,0.00007357342,0.00001229705,0.0002909874],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002302671,"threshold_uncertainty_score":0.007703245,"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."}}