{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002219219,0.0001641423,0.0001644917,0.00004349461,0.00009568967,0.00002232661,0.0001620821,0.00009310343,0.0000401757],"category_scores_gemma":[0.0001310799,0.000119819,0.00006824518,0.0001486217,0.0001209072,0.000007173865,0.0001975601,0.0000894042,0.000002304004],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006359594,"about_ca_system_score_gemma":0.0002062141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006721892,"about_ca_topic_score_gemma":0.0003473815,"domain_scores_codex":[0.9987901,0.0001653479,0.0002777263,0.0003337837,0.0001956042,0.0002374292],"domain_scores_gemma":[0.9994626,0.00003590696,0.0001222698,0.0002497297,0.00008489735,0.00004461237],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001370721,0.00003172324,0.01167445,0.00003531307,0.00003185047,0.00001499499,0.001211018,0.0000144593,0.9792013,0.00006396222,0.001315788,0.006268046],"study_design_scores_gemma":[0.001045576,0.0001308147,0.1328811,0.00007059387,0.00003567414,0.00005807142,0.001059797,0.00004150844,0.8466671,0.0001791077,0.01753347,0.0002971272],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9852439,0.01188643,0.00005743357,0.0007744688,0.0007080806,0.0002440726,0.00001405134,0.00000557243,0.001066055],"genre_scores_gemma":[0.9960914,0.0008515017,0.0007153943,0.0004392705,0.000106547,0.00003111476,0.0001030813,0.00001940944,0.001642264],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1325342,"threshold_uncertainty_score":0.4886078,"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."}}