{"id":"W3128086959","doi":"10.1016/j.ymgme.2020.12.042","title":"Base editing of the N370S mutation in Gaucher disease skin fibroblasts","year":2021,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; University of Victoria","funders":"","keywords":"Mutation; Base (topology); Disease; Genetics; Biology; Medicine; Pathology; Mathematics; Gene","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":[0.0002082944,0.0005411557,0.0003067758,0.0004447851,0.0005065676,0.0003979767,0.0003826569,0.0006582836,0.003645931],"category_scores_gemma":[0.000504879,0.0001493244,0.000432845,0.0001723749,0.0002722735,0.0001384277,0.0002822775,0.0003574578,0.0009487012],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00040015,"about_ca_system_score_gemma":0.0003818055,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004665851,"about_ca_topic_score_gemma":0.003400789,"domain_scores_codex":[0.9997496,0.00004933675,0.00004247565,0.00005737268,0.00006621668,0.00003504862],"domain_scores_gemma":[0.999698,0.0001038353,0.00004387085,0.00004533794,0.00004074327,0.00006822947],"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":[0.0002335753,0.00004745656,0.001075007,0.0000377112,0.0000323935,0.0123418,0.0001216561,0.0005273197,0.9800369,0.00050277,0.0002342526,0.00480927],"study_design_scores_gemma":[0.00004959541,0.0002654227,0.01302757,0.00001833272,0.0001099965,0.02933165,0.0002438738,0.002935076,0.9485355,0.0006127099,0.00482531,0.00004495055],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929548,0.0003773323,0.001564892,0.0001192566,0.0001073374,0.00002500556,0.0003720318,0.00007045684,0.00440887],"genre_scores_gemma":[0.9970576,0.0001304858,0.0007161656,0.00003633092,0.000008757573,0.000005123127,0.0001463294,0.00002477667,0.001874568],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004665851,"threshold_uncertainty_score":0.01219684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009667797436008376,"score_gpt":0.2619346315608125,"score_spread":0.2522668341248041,"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."}}