{"id":"W2563455530","doi":"10.1016/s1525-0016(16)33130-6","title":"321. Deletion of Mutated GAA Repeats from the Intron 1 of the Frataxin Gene Using the CRISPR System Restores the Protein Expression in a Friedreich Ataxia Model","year":2016,"lang":"en","type":"article","venue":"Molecular Therapy","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; National Research Council Canada; Université Laval","funders":"","keywords":"Frataxin; Biology; CRISPR; Intron; Genetics; Gene; Trinucleotide repeat expansion; Ataxia; Molecular biology; Guide RNA; Genome editing; Allele; Iron-binding proteins","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":[0.00038043,0.0002310413,0.0002157268,0.00004036365,0.0002483084,0.00003629215,0.001305961,0.00006936716,0.00001001086],"category_scores_gemma":[0.0005511752,0.00008500781,0.0001398594,0.0003545093,0.0003801402,0.00006623821,0.0002333169,0.00016848,0.00000182475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005402478,"about_ca_system_score_gemma":0.0001180056,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002249252,"about_ca_topic_score_gemma":0.00002224665,"domain_scores_codex":[0.9960459,0.002132406,0.0004408741,0.0004782437,0.0006456621,0.0002569094],"domain_scores_gemma":[0.997397,0.0002981292,0.000390201,0.001770659,0.000110281,0.00003373118],"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":[0.0002220037,0.00005748292,0.00044354,0.000006776506,0.000009314012,0.000005269843,0.000596282,0.008218372,0.9898508,0.0001988036,0.00003831053,0.0003530553],"study_design_scores_gemma":[0.0006407066,0.00005262778,0.002422879,0.000204537,0.00001470097,0.000003249561,0.0001363049,0.008325614,0.9872174,0.0008470937,0.00002636484,0.0001084677],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.976478,0.0008422976,0.0198419,0.001122218,0.00008682279,0.001501957,0.0000956413,0.0000207357,0.00001037215],"genre_scores_gemma":[0.9989209,0.00005422054,0.0003600297,0.0004193437,0.00003404993,0.0001477432,0.000001997524,0.00003965195,0.00002210217],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02244281,"threshold_uncertainty_score":0.3466518,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03548892053044748,"score_gpt":0.2655308556771779,"score_spread":0.2300419351467305,"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."}}