{"id":"W2069604634","doi":"10.1080/03630260802625980","title":"α<sup>+</sup>-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (<i>C</i>AG&gt;<i>T</i>AG)","year":2009,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Hamilton Regional Laboratory Medicine Program; Hamilton Health Sciences","funders":"","keywords":"Nonsense mutation; Genetics; Exon; Nonsense; Thalassemia; Mutation; Point mutation; Gene; Biology; Nonsense-mediated decay; Molecular biology; Missense mutation; RNA splicing; RNA","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":[0.0001081064,0.0007918473,0.0002424695,0.0004872989,0.0003658752,0.0002153759,0.0001708527,0.0006825985,0.002349729],"category_scores_gemma":[0.0006816971,0.0002136976,0.0001773514,0.0002141373,0.000450689,0.0001534468,0.0001861899,0.0005156135,0.0005898536],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001266146,"about_ca_system_score_gemma":0.000136432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006315456,"about_ca_topic_score_gemma":0.0005123937,"domain_scores_codex":[0.9999169,0.00001439337,0.000009794975,0.00002234169,0.0000154266,0.00002121434],"domain_scores_gemma":[0.9997284,0.0001027478,0.00007709719,0.00001478109,0.00001608693,0.00006088825],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004766673,0.0002243742,0.1214711,0.00008927432,0.00004257145,0.757358,0.0008184622,0.0001381519,0.103585,0.0004974134,0.001873893,0.01342494],"study_design_scores_gemma":[0.00006826924,0.0008178148,0.07935211,0.00002052308,0.00008489537,0.8960944,0.0001852967,0.0004348598,0.01846641,0.0003270158,0.004128482,0.00001990131],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963554,0.0004866501,0.0007822596,0.0004118201,0.00006655519,0.00002220171,0.0001037269,0.00003227848,0.001739243],"genre_scores_gemma":[0.9979815,0.0002400626,0.0005615244,0.0001483298,0.00008967637,0.000007754706,0.0001003681,0.000007056337,0.0008635705],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002349729,"threshold_uncertainty_score":0.007860661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008923124631567528,"score_gpt":0.24274255086503,"score_spread":0.2338194262334625,"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."}}