{"id":"W1995140705","doi":"10.1016/j.preteyeres.2008.05.003","title":"Leber congenital amaurosis: Genes, proteins and disease mechanisms","year":2008,"lang":"en","type":"review","venue":"Progress in Retinal and Eye Research","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":824,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"RPE65; GUCY2D; Biology; Genetics; Retinal degeneration; Retinitis pigmentosa; Visual phototransduction; Genetic heterogeneity; Joubert syndrome; Dystrophy; Cis-trans-Isomerases; Gene; Retina; Phenotype; Neuroscience; Genetic enhancement","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005507153,0.001228087,0.002142104,0.002045863,0.000281801,0.001114682,0.001214495,0.001179271,0.002324494],"category_scores_gemma":[0.0005473068,0.0003144733,0.0003845519,0.002709844,0.000783038,0.001373772,0.0006799116,0.001802495,0.001805202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007238787,"about_ca_system_score_gemma":0.0009821076,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001115367,"about_ca_topic_score_gemma":0.001599358,"domain_scores_codex":[0.9998158,0.00002436594,0.00003382305,0.00003283812,0.00007302352,0.00002018199],"domain_scores_gemma":[0.9997343,0.0001106337,0.00004738398,0.0000101213,0.00005826139,0.00003912858],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001410831,0.00005665452,0.0004056859,0.007419216,0.00008636451,0.0007098791,0.00004507374,0.0005264121,0.004697994,0.003281679,0.04160384,0.9410262],"study_design_scores_gemma":[0.00003643989,0.00006088315,0.001526987,0.001442639,0.0001695913,0.004256292,0.00008341628,0.0001260059,0.001158409,0.003513237,0.9876001,0.00002601045],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001562259,0.9985007,0.000281921,0.0002295142,0.000250066,0.000002471046,0.00001659207,0.00001694513,0.0005455461],"genre_scores_gemma":[0.0006724409,0.9977711,0.0003810893,0.0001601851,0.000298585,0.000005094179,0.0000404072,0.00000162014,0.0006695163],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002324494,"threshold_uncertainty_score":0.007776201,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05724635607473066,"score_gpt":0.3834814387729066,"score_spread":0.3262350826981759,"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."}}