{"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,"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."}}