{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0009039917,0.0006132602,0.0007610103,0.0002762578,0.0002529834,0.000105177,0.0003802508,0.0006301541,0.0001999385],"category_scores_gemma":[0.0001885487,0.0004663334,0.0003226693,0.001307659,0.0001586552,0.0001925226,0.00003848401,0.001010513,0.0002369178],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003181223,"about_ca_system_score_gemma":0.0003255829,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003073488,"about_ca_topic_score_gemma":0.00005281596,"domain_scores_codex":[0.9958981,0.0003667225,0.000944168,0.0008367427,0.0008918338,0.001062489],"domain_scores_gemma":[0.998224,0.0002242133,0.0002155304,0.0008467074,0.0001426642,0.0003468423],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00226313,0.005459651,0.005854988,0.0004640871,0.0004158492,0.006879867,0.02818989,0.004537588,0.22324,0.001439735,0.6352876,0.08596768],"study_design_scores_gemma":[0.09242682,0.0104373,0.1344978,0.003251626,0.002815207,0.01672227,0.024,0.08577714,0.1009637,0.005060531,0.5165,0.00754762],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9721297,0.001795447,0.000504019,0.01581634,0.0001562567,0.001748789,0.0001163869,0.0002584793,0.007474554],"genre_scores_gemma":[0.9846395,0.0003855074,0.0007294574,0.01179631,0.0001800702,0.00006752597,0.0004246768,0.0000744441,0.001702462],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1286428,"threshold_uncertainty_score":0.9997789,"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."}}