{"id":"W2883740762","doi":"10.1164/rccm.201802-0338le","title":"Ataluren, a New Therapeutic for Alpha-1 Antitrypsin–Deficient Individuals with Nonsense Mutations","year":2018,"lang":"en","type":"letter","venue":"American Journal of Respiratory and Critical Care Medicine","topic":"Protease and Inhibitor Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; St. Michael's Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Royal College of Surgeons in Ireland; Medical Research Charities Group; School of Medicine, Boston University; National Institutes of Health; Alpha-1 Foundation","keywords":"Medicine; Nonsense; Nonsense mutation; Alpha (finance); Alpha 1-antitrypsin deficiency; Genetics; Mutation; Internal medicine; Gene; Surgery; Missense mutation","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":[0.0001623883,0.0005231994,0.0005353061,0.0007412646,0.0003637104,0.0004778861,0.0006791098,0.0008439763,0.006872068],"category_scores_gemma":[0.0002811854,0.0001250824,0.0005693164,0.0002773897,0.0001762581,0.0004915443,0.0004025595,0.001285105,0.003065069],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003132379,"about_ca_system_score_gemma":0.0002392889,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005915618,"about_ca_topic_score_gemma":0.002406939,"domain_scores_codex":[0.9998807,0.00001943554,0.00001431216,0.000030568,0.00003801784,0.00001703434],"domain_scores_gemma":[0.9999354,0.00001249638,0.00001832599,0.000005470753,0.000007996166,0.000020349],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002803551,0.001043345,0.003316735,0.002184574,0.0003318123,0.01148073,0.0001886978,0.0004542253,0.08464712,0.005507292,0.0638473,0.8241947],"study_design_scores_gemma":[0.00363967,0.005005726,0.01766556,0.0009686243,0.0005256805,0.05227586,0.0001091456,0.001206085,0.02436081,0.003389852,0.8907594,0.00009368039],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"commentary","genre_scores_codex":[0.1941566,0.6113449,0.01647616,0.01027159,0.003613688,0.001104375,0.004132432,0.003545613,0.1553545],"genre_scores_gemma":[0.7039295,0.1635804,0.03131781,0.01533826,0.00143767,0.001011549,0.006541893,0.0002780347,0.0765648],"genre_candidate":"commentary","genre_consensus":null,"teacher_disagreement_score":0.006872068,"threshold_uncertainty_score":0.02298933,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02027562834350695,"score_gpt":0.3074704529357251,"score_spread":0.2871948245922181,"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."}}