{"id":"W3215985160","doi":"10.3390/genes12121853","title":"Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa","year":2021,"lang":"en","type":"article","venue":"Genes","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Eye Institute; Foundation Fighting Blindness","keywords":"Retinitis pigmentosa; Rhodopsin; Mutation; Genetics; Phenotype; Gene; Biology; Gene therapy of the human retina; Medicine; Ophthalmology; Retinal","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":[0.000234464,0.0002971338,0.0001881943,0.0004562946,0.0002160761,0.0002543552,0.0001760315,0.0003221332,0.0007505232],"category_scores_gemma":[0.001034916,0.0001097369,0.0001956307,0.0003394611,0.0003652833,0.0002530524,0.0002632155,0.0002748844,0.000258759],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001118394,"about_ca_system_score_gemma":0.0001506771,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004223695,"about_ca_topic_score_gemma":0.0006245736,"domain_scores_codex":[0.9998348,0.0000455237,0.00002071734,0.0000456449,0.00002567413,0.00002763344],"domain_scores_gemma":[0.9993924,0.0002084285,0.0001922743,0.00008438148,0.0000374826,0.00008498815],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007578278,0.0002059536,0.5848659,0.0001365195,0.0000385387,0.23984,0.001247893,0.0007278387,0.1189748,0.0003971627,0.0004395528,0.05236805],"study_design_scores_gemma":[0.00001829262,0.000379942,0.4474901,0.00002757514,0.00003418425,0.5439261,0.0002425276,0.0007077557,0.005528126,0.000365624,0.001259077,0.00002062696],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981845,0.0004237655,0.0004101389,0.00005380904,0.000002815029,0.000005828193,0.00003631767,0.00001769246,0.0008650862],"genre_scores_gemma":[0.9994886,0.0001332596,0.0002195376,0.0000207219,0.000006944424,0.000001718997,0.00002334479,0.000004570511,0.0001013545],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007505232,"threshold_uncertainty_score":0.002510726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009553243945548184,"score_gpt":0.22375886081321,"score_spread":0.2142056168676618,"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."}}