{"id":"W7045043397","doi":"","title":"Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy","year":2020,"lang":"en","type":"article","venue":"Arrow@dit (Dublin Institute of Technology)","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Science Foundation Ireland; National Institutes of Health; Agence Nationale de la Recherche; Trinity College Dublin; Medical Research Charities Group","keywords":"RPE65; Retinitis pigmentosa; Retinoid; Visual acuity; Electroretinography; Cis-trans-Isomerases; Clinical trial; Visual phototransduction; Retinal","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001868732,0.0003071942,0.0003446382,0.0002410498,0.0001513779,0.00002859808,0.0004392616,0.0003070763,0.00004324657],"category_scores_gemma":[0.0005942327,0.0002803082,0.00008756404,0.0007225742,0.0003373929,0.00003158821,0.0001592602,0.000206491,0.00003275275],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002253405,"about_ca_system_score_gemma":0.0001936037,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001509344,"about_ca_topic_score_gemma":0.00002931211,"domain_scores_codex":[0.9982436,0.0000401982,0.0004329242,0.0006637985,0.0002371701,0.0003822835],"domain_scores_gemma":[0.9989012,0.00001624846,0.0002776144,0.0004355371,0.0002461761,0.0001231649],"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":[0.005645744,0.0001408386,0.005819493,0.00008654767,0.0002363454,0.0001364542,0.0009069736,0.0002668729,0.9167585,0.0003908042,0.005337139,0.06427424],"study_design_scores_gemma":[0.001851067,0.001632226,0.0005527388,0.0001198637,0.00002437974,0.00003612492,0.000757577,0.00004336382,0.8312633,0.0001900931,0.1631052,0.0004240702],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820083,0.0003394224,0.001576327,0.01423059,0.00016051,0.0005917887,0.00002821648,0.00008770335,0.0009771176],"genre_scores_gemma":[0.9810012,0.0003903616,0.01660243,0.001504165,0.00003762268,0.00009174225,0.000115532,0.00003889592,0.0002180463],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.157768,"threshold_uncertainty_score":0.9999649,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01362419561708071,"score_gpt":0.2515325386968681,"score_spread":0.2379083430797874,"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."}}