{"id":"W4410086068","doi":"10.21203/rs.3.rs-5849564/v2","title":"RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals","year":2025,"lang":"en","type":"preprint","venue":"Research Square","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; University of British Columbia","funders":"National Eye Institute; Medical Research Council; Horizon 2020 Framework Programme; Institute of Genetics; Bijzonder Onderzoeksfonds UGent; National Institutes of Health; Universiteit Gent; Moorfields Eye Hospital NHS Foundation Trust; Vlaamse regering; Radboud Universiteit; Fonds Wetenschappelijk Onderzoek; Trinity College Dublin; Radboud Universitair Medisch Centrum; Université de Lille; H2020 Marie Skłodowska-Curie Actions; NHS Greater Glasgow and Clyde","keywords":"RPE65; Maculopathy; Medicine; Biology; Psychology; Ophthalmology; Demography; Endocrinology; Retinal; Sociology; Retinopathy","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":[0.0002446801,0.001798749,0.0005445794,0.0007378946,0.00112835,0.000678537,0.0004021211,0.001376173,0.004493868],"category_scores_gemma":[0.000931328,0.0005174725,0.0007305034,0.0005959944,0.0007159318,0.0002724277,0.0006063516,0.0006824453,0.001385047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002684012,"about_ca_system_score_gemma":0.0001556861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002819101,"about_ca_topic_score_gemma":0.001710575,"domain_scores_codex":[0.9996437,0.00003637392,0.00004335267,0.0001278831,0.00007336069,0.00007523996],"domain_scores_gemma":[0.9997316,0.00007778294,0.00006323787,0.00002880613,0.00002730795,0.0000712169],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002442032,0.0006372334,0.1409002,0.0002847228,0.0005968446,0.6659423,0.00327085,0.0005985625,0.1436501,0.001023138,0.0039336,0.03672039],"study_design_scores_gemma":[0.0002138284,0.0009402851,0.5972629,0.0001701239,0.0005512593,0.3810887,0.0009370951,0.0008343389,0.01086145,0.0008812526,0.006164239,0.00009445759],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960151,0.0004231213,0.0008378353,0.0001626295,0.0000356828,0.00003595299,0.0004058896,0.00006390284,0.002019754],"genre_scores_gemma":[0.9972559,0.0002399428,0.0004126962,0.00009272221,0.00003267467,0.00001273746,0.0002301588,0.00002783195,0.001695346],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004493868,"threshold_uncertainty_score":0.01503348,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02786799495156069,"score_gpt":0.3620684646216303,"score_spread":0.3342004696700696,"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."}}