{"id":"W3109832430","doi":"10.3390/genes11121420","title":"Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa","year":2020,"lang":"en","type":"review","venue":"Genes","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"Canadian Institutes of Health Research; Science Foundation Ireland","keywords":"RPE65; Retinitis pigmentosa; Visual phototransduction; Cis-trans-Isomerases; Genetics; Compound heterozygosity; Biology; Retinal pigment epithelium; Mutation; Retinal; Gene; Genetic enhancement; Biochemistry; Isomerase; Peptidylprolyl isomerase","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002771042,0.0002604788,0.000419289,0.0001738633,0.0001815207,0.0002918819,0.0001701227,0.0006261822,0.0006078398],"category_scores_gemma":[0.000321133,0.00008361133,0.0003895248,0.000150539,0.0003711977,0.0001360644,0.0001043679,0.0006200416,0.000243453],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002520524,"about_ca_system_score_gemma":0.0001052753,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003734927,"about_ca_topic_score_gemma":0.000330438,"domain_scores_codex":[0.9998397,0.00005552995,0.00001420791,0.0000271252,0.0000324933,0.00003087434],"domain_scores_gemma":[0.9999022,0.00003022826,0.00002018732,0.00001450498,0.00001039644,0.00002247806],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00610537,0.001967042,0.01311873,0.0002506394,0.000134605,0.02957936,0.0002261185,0.0008228364,0.8996023,0.0007282706,0.0008257942,0.04663907],"study_design_scores_gemma":[0.0032624,0.08558145,0.148332,0.0001430684,0.001137472,0.218969,0.0006532915,0.008885134,0.4940547,0.002382296,0.03648837,0.000110842],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9916165,0.005567015,0.0006117406,0.0005058697,0.00003797983,0.00003037272,0.0000714402,0.00002871939,0.001530394],"genre_scores_gemma":[0.9981639,0.0008704303,0.0003216545,0.0001856228,0.00002668463,0.00001073982,0.00008759464,0.000004232628,0.0003292403],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.0006261822,"threshold_uncertainty_score":0.002033472,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03769629994649212,"score_gpt":0.268979641024659,"score_spread":0.2312833410781669,"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."}}