{"id":"W2105625618","doi":"10.1093/hmg/dds242","title":"Expression of PRPF31 and TFPT: regulation in health and retinal disease","year":2012,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"Canadian Institutes of Health Research","keywords":"Biology; Haploinsufficiency; Genetics; Promoter; Reporter gene; Penetrance; Gene; Allele; Luciferase; Molecular biology; Phenotype; Gene expression; Transfection","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":[0.0001491182,0.00009650768,0.00009513279,0.00004647551,0.00004169242,0.000007925262,0.00004491484,0.00005328576,0.000005294522],"category_scores_gemma":[0.00002797717,0.00009923297,0.00001962946,0.00004079397,0.00007204382,0.000003172101,0.00008386297,0.00003631864,3.486836e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005233587,"about_ca_system_score_gemma":0.00003594989,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004706698,"about_ca_topic_score_gemma":0.000003287904,"domain_scores_codex":[0.9992934,0.00006589654,0.0001936698,0.0001699451,0.0001018518,0.0001752299],"domain_scores_gemma":[0.9995862,0.000002831081,0.00007988612,0.0001464578,0.00002163853,0.0001629855],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00007240959,0.00005673273,0.2342889,0.0001241448,0.000004820799,0.000001034578,0.0002484515,0.00002068796,0.7634392,0.0004846366,0.0001531032,0.001105812],"study_design_scores_gemma":[0.0006634291,0.0002034066,0.8812971,0.00008759848,0.000007881424,0.000004040993,0.0001106447,0.00003687396,0.1132569,0.0008219717,0.003304698,0.0002055256],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9871945,0.01144207,0.0008882374,0.00006117303,0.00001763423,0.0001494247,0.000001841853,0.000002860492,0.0002422073],"genre_scores_gemma":[0.9973678,0.0006483183,0.001691325,0.0001070221,0.00002380797,0.000006344028,0.00007380742,0.00001281802,0.00006877888],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6501824,"threshold_uncertainty_score":0.4046603,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01013137327240807,"score_gpt":0.2649417057336905,"score_spread":0.2548103324612824,"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."}}