{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001461747,0.0002384392,0.0001768534,0.0002699657,0.0001264203,0.0001872765,0.0001657504,0.0003294682,0.0004992188],"category_scores_gemma":[0.0001504497,0.00007744189,0.00016189,0.0001579455,0.000293529,0.0001234068,0.0001861233,0.0002259993,0.0002051909],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002465093,"about_ca_system_score_gemma":0.0001290363,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004401961,"about_ca_topic_score_gemma":0.0003263278,"domain_scores_codex":[0.9998453,0.00003136799,0.00001176391,0.00004663612,0.0000376931,0.00002728],"domain_scores_gemma":[0.999896,0.00001985353,0.00003778614,0.000009111395,0.00001280202,0.00002444604],"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":[0.00009881142,0.00001347009,0.001223544,0.00002050389,0.000002676999,0.0003399953,0.00004076598,0.00003189041,0.9963716,0.0001014449,0.00003046555,0.001724697],"study_design_scores_gemma":[0.0000491761,0.0004584114,0.1715512,0.00002603214,0.00003529097,0.009968386,0.0002568155,0.002607913,0.8093617,0.0008266872,0.004830315,0.00002807394],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946412,0.002350072,0.002091123,0.00007736563,0.000008627891,0.000008969954,0.0001604938,0.00003222024,0.0006299022],"genre_scores_gemma":[0.9973959,0.0005018696,0.001061606,0.0000285859,0.000006980346,0.00001271855,0.0002080056,0.000008286158,0.0007760088],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0004992188,"threshold_uncertainty_score":0.001788557,"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."}}