{"id":"W2010329064","doi":"10.1097/00006982-200510000-00016","title":"EVALUATION OF GENOTYPE–PHENOTYPE ASSOCIATIONS IN LEBER CONGENITAL AMAUROSIS","year":2005,"lang":"en","type":"article","venue":"Retina","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"RPE65; GUCY2D; Genotype; Cohort; Biology; Ophthalmology; Medicine; Genetic variation; Retinal degeneration; Genetics; Phenotype; Retinal; Gene; Pathology; Retinal pigment epithelium","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":[0.0006969545,0.0000648636,0.00007458478,0.00003640768,0.00002205064,0.000005513685,0.00006360211,0.00007894803,0.00008330729],"category_scores_gemma":[0.000299281,0.00006700059,0.00003750595,0.00009043757,0.00002410789,0.000003351314,0.00002688111,0.00003630038,0.00002385288],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003581821,"about_ca_system_score_gemma":0.0001126225,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002615411,"about_ca_topic_score_gemma":0.0003039006,"domain_scores_codex":[0.9992505,0.00009425478,0.0001638686,0.0001364551,0.0002418782,0.0001130261],"domain_scores_gemma":[0.9995986,0.000009525615,0.00006596325,0.0001055348,0.0001994405,0.00002088569],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001364263,0.0003346455,0.2473488,0.00001652835,0.0001564826,6.751301e-7,0.0006104892,0.001206551,0.6490261,0.0005437059,0.005101737,0.09551783],"study_design_scores_gemma":[0.0017759,0.0001390536,0.854838,0.0000141731,0.0001194154,0.000001404453,0.0001515665,0.001387281,0.1232465,0.0004523412,0.01754315,0.0003312114],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9783682,0.0005914916,0.00005429482,0.0001836117,0.00004075675,0.000132601,0.000005964494,0.00000378738,0.02061934],"genre_scores_gemma":[0.9988819,0.00006738768,0.0005125009,0.00005030932,0.00005234576,0.00001152135,0.00009772768,0.000007815496,0.0003185242],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6074892,"threshold_uncertainty_score":0.2732205,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0190089915044169,"score_gpt":0.2799305889428698,"score_spread":0.2609215974384528,"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."}}