{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002054766,0.001029962,0.0004151412,0.0005978944,0.001041564,0.0004818288,0.0002786817,0.0005909703,0.002293129],"category_scores_gemma":[0.0007377797,0.0003519125,0.0004871826,0.0006183255,0.0004764157,0.0001062349,0.0003872678,0.00034739,0.0004982572],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003657851,"about_ca_system_score_gemma":0.0002348687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007517032,"about_ca_topic_score_gemma":0.005938386,"domain_scores_codex":[0.9996835,0.00003431152,0.000033243,0.0001313791,0.00006363926,0.00005389879],"domain_scores_gemma":[0.9998295,0.00003885815,0.00005326161,0.0000168955,0.0000202461,0.00004116649],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001656236,0.0004250527,0.7687073,0.0001429886,0.000555925,0.1145361,0.002055764,0.0004948583,0.08150005,0.0002870176,0.00168529,0.02795335],"study_design_scores_gemma":[0.00008160906,0.0004209379,0.9249567,0.0000422194,0.0002345273,0.06841493,0.0003193435,0.0004495152,0.003034881,0.000107443,0.001913328,0.0000245859],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988984,0.0001407744,0.0002646881,0.00002182238,0.000004431035,0.00001608695,0.0002188373,0.00001929039,0.0004155825],"genre_scores_gemma":[0.9990101,0.00008721135,0.0002687703,0.0000391862,0.000005908422,0.000006788643,0.000216519,0.000007927755,0.0003575269],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007517032,"threshold_uncertainty_score":0.01494658,"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."}}