{"id":"W4414425882","doi":"10.1167/iovs.66.12.53","title":"RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals","year":2025,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of British Columbia","funders":"National Eye Institute; Horizon 2020 Framework Programme; Universiteit Gent; Vlaamse regering; Bijzonder Onderzoeksfonds UGent; National Institutes of Health; Fonds Wetenschappelijk Onderzoek; Université de Lille","keywords":"RPE65; Maculopathy; Founder effect; Age-related maculopathy","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0008383245,0.0003088834,0.0003080586,0.00036687,0.000268664,0.00006411786,0.0006470534,0.0002200737,0.0000288768],"category_scores_gemma":[0.001825422,0.0002766458,0.00006448408,0.001501239,0.002534841,0.00002643919,0.0005055816,0.0002074273,0.00002077343],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006624899,"about_ca_system_score_gemma":0.001112418,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001885633,"about_ca_topic_score_gemma":0.00004964778,"domain_scores_codex":[0.997538,0.000180842,0.0003966444,0.0009249068,0.0002920785,0.0006675192],"domain_scores_gemma":[0.9990742,0.00006749319,0.0001521777,0.0002888663,0.0002354824,0.0001818214],"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":[0.00005413531,0.0001891261,0.1725244,0.00001626951,0.00002419878,0.00008307934,0.0002713319,0.00001066054,0.8261863,0.0003486518,0.000203312,0.00008858483],"study_design_scores_gemma":[0.0008308432,0.0003456192,0.4856332,0.00008346159,0.00001272157,0.0001461539,0.0002761007,0.00006746809,0.5104522,0.001674525,0.0001843656,0.0002933577],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958186,0.0001777401,0.00004776804,0.0005143819,0.0002923187,0.000424425,0.00002284507,0.00001444206,0.002687505],"genre_scores_gemma":[0.9967653,0.00002682245,0.001722179,0.0007658831,0.00002477647,0.0001081151,0.00005503034,0.000012886,0.0005189912],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3157341,"threshold_uncertainty_score":0.9999686,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0162537519639298,"score_gpt":0.3148066256410655,"score_spread":0.2985528736771357,"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."}}