{"id":"W7045043397","doi":"","title":"Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy","year":2020,"lang":"en","type":"article","venue":"Arrow@dit (Dublin Institute of Technology)","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Science Foundation Ireland; National Institutes of Health; Agence Nationale de la Recherche; Trinity College Dublin; Medical Research Charities Group","keywords":"RPE65; Retinitis pigmentosa; Retinoid; Visual acuity; Electroretinography; Cis-trans-Isomerases; Clinical trial; Visual phototransduction; Retinal","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002821973,0.0003620015,0.0005115396,0.0001545703,0.0001554601,0.0002677635,0.0001196085,0.0003632931,0.001013124],"category_scores_gemma":[0.0001596784,0.00009554775,0.0004103238,0.00013689,0.0002437845,0.0001323125,0.000129527,0.0005016326,0.0002779],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002007004,"about_ca_system_score_gemma":0.0001853257,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003768403,"about_ca_topic_score_gemma":0.0005655141,"domain_scores_codex":[0.9998757,0.00002435994,0.00001332951,0.00002661169,0.00003406431,0.00002591194],"domain_scores_gemma":[0.9999042,0.00002177028,0.00003306213,0.00001116141,0.000008831289,0.00002104116],"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":[0.002557516,0.0004791287,0.004611189,0.0001137917,0.00003671487,0.004080371,0.00004427037,0.0001554307,0.9775444,0.0000770886,0.000149326,0.01015081],"study_design_scores_gemma":[0.002151209,0.03728648,0.173774,0.00009986906,0.0004758887,0.06841752,0.0002765927,0.004211167,0.6995723,0.0003329553,0.01334354,0.00005847614],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997075,0.001145973,0.0006828064,0.0000761541,0.00001540953,0.00004795268,0.00007868,0.00004260767,0.0008353072],"genre_scores_gemma":[0.997704,0.0006705984,0.0006087095,0.0000881519,0.00001435712,0.00003028301,0.0001868845,0.000007714419,0.0006893015],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001013124,"threshold_uncertainty_score":0.003389239,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01362419561708071,"score_gpt":0.2515325386968681,"score_spread":0.2379083430797874,"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."}}