{"id":"W4413757346","doi":"10.3390/genes16091016","title":"Genotype–Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK","year":2025,"lang":"en","type":"article","venue":"Genes","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Genotype; Phenotype; Medicine; Optometry; Genetics; Biology; Ophthalmology; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0000466441,0.0001019229,0.0001590503,0.00008592747,0.00005990642,0.00001090145,0.0001650284,0.00008403695,0.0000292427],"category_scores_gemma":[0.00007244858,0.00008061992,0.00009108183,0.0004863098,0.00006815055,0.000002020219,0.0001001832,0.00004560793,0.00000289331],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008338722,"about_ca_system_score_gemma":0.00005991762,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001906721,"about_ca_topic_score_gemma":0.0003814573,"domain_scores_codex":[0.999307,0.00004774702,0.000224431,0.000211094,0.00009047936,0.0001192492],"domain_scores_gemma":[0.9994706,0.00003679957,0.00008601957,0.0002495145,0.0001403844,0.00001671445],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008762959,0.00005809288,0.9891102,0.000005931112,0.0003404826,2.849144e-7,0.0003007633,0.0003939596,0.006905747,0.00006162359,0.0008935026,0.001841724],"study_design_scores_gemma":[0.0003062429,0.00005488028,0.987564,0.00001217187,0.0001628052,8.29622e-9,0.0003693322,0.0001082646,0.001877856,0.0001626936,0.00928443,0.00009733776],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960104,0.002066699,0.0003782081,0.0001680302,0.0001539909,0.0001809333,0.00004092353,0.000003984605,0.0009967928],"genre_scores_gemma":[0.9979455,0.0006223331,0.0003183431,0.0002067747,0.0000163176,0.00001575108,0.0006309235,0.000005401678,0.0002386676],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008390928,"threshold_uncertainty_score":0.3287585,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005722797067262433,"score_gpt":0.2331435324254936,"score_spread":0.2274207353582312,"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."}}