{"id":"W4402025483","doi":"10.1097/icb.0000000000001652","title":"PRETERM FAMILIAL EXUDATIVE VITREORETINOPATHY: A NOVEL NONSENSE LRP5 MUTATION","year":2024,"lang":"en","type":"article","venue":"Retinal Cases & Brief Reports","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; Sunnybrook Health Science Centre; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Medicine; Ophthalmology; Retinal; Genetic testing; Coats' disease; Fluorescein angiography; Retinal detachment; Nonsense mutation; Family history; Surgery; Mutation; Genetics; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"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":[0.0003373242,0.0002758883,0.0001910222,0.00008594082,0.000113344,0.0001185339,0.0000807526,0.0001321442,0.00006577173],"category_scores_gemma":[0.0004565678,0.0002648995,0.0001742117,0.0001816928,0.0001485055,0.000014125,0.00009863306,0.0001402345,0.00001907135],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003551691,"about_ca_system_score_gemma":0.0003224815,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008101856,"about_ca_topic_score_gemma":0.00002315153,"domain_scores_codex":[0.9980984,0.00005467115,0.0004544377,0.0007428769,0.0003157293,0.0003338759],"domain_scores_gemma":[0.9991988,0.0000496336,0.0001520306,0.0003308633,0.0001443374,0.0001243403],"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":[0.001522643,0.000198824,0.01031537,0.0004210312,0.0002791926,0.04474127,0.0009046045,0.00003998175,0.8971573,0.001026329,0.01724608,0.02614742],"study_design_scores_gemma":[0.001503679,0.003019225,0.02742789,0.0007810207,0.0004201008,0.1135934,0.001160803,0.001181356,0.4317605,0.001467557,0.4150234,0.002660997],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822754,0.001365455,0.001647524,0.0001459722,0.0004996444,0.0003482208,0.00003319543,0.00008259195,0.01360203],"genre_scores_gemma":[0.9954289,0.0001210474,0.0008244692,0.0001830696,0.0003057059,0.00005002501,0.0006624925,0.0000467929,0.002377463],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4653967,"threshold_uncertainty_score":0.9999803,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01072613797595804,"score_gpt":0.2613579155570258,"score_spread":0.2506317775810677,"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."}}