{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001069713,0.0002742535,0.0006001706,0.00004164792,0.00007873079,0.00003036008,0.0001880749,0.0001815945,0.00000830818],"category_scores_gemma":[0.00003865351,0.0001853927,0.00009681169,0.0001185562,0.0001123161,0.000002978408,0.0000817434,0.00006923197,0.00000210381],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001101473,"about_ca_system_score_gemma":0.0003154079,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008033464,"about_ca_topic_score_gemma":0.00002515177,"domain_scores_codex":[0.9988567,0.0001392844,0.0003488701,0.0003629595,0.0001092938,0.0001829204],"domain_scores_gemma":[0.9993377,0.00001537565,0.0002645308,0.0002473386,0.0000632778,0.00007177942],"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":[0.00004794897,0.0001086953,0.000128105,0.002803993,0.0007706737,0.000009228582,0.0001921431,6.341635e-7,0.005673011,0.0001039724,0.00005377107,0.9901078],"study_design_scores_gemma":[0.0007548957,0.001101552,0.001235257,0.003159658,0.001465162,0.0001768908,0.0001642183,0.00001778601,0.003218265,0.0001168108,0.9876488,0.0009407164],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00695231,0.9919222,0.00007624435,0.00007782324,0.00002948688,0.0005899208,0.00004761942,0.00001207438,0.0002923266],"genre_scores_gemma":[0.009537955,0.9892121,0.0003162086,0.00004257452,0.00004127291,0.0001618451,0.0004791415,0.000040569,0.0001683583],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9891671,"threshold_uncertainty_score":0.7560095,"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."}}