{"id":"W2048803265","doi":"10.3109/03630260903333377","title":"α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G&gt;A and G&gt;T)","year":2009,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hamilton Regional Laboratory Medicine Program; McMaster University; Hamilton Health Sciences","funders":"","keywords":"Intron; Genetics; RNA splicing; Gene; Thalassemia; Globin; Biology; Mutation; splice; Molecular biology; Nucleotide; 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":[],"consensus_categories":[],"category_scores_codex":[0.0001886489,0.0002995298,0.0004437015,0.0000910594,0.0001988954,0.0000210168,0.0002004609,0.0002475239,0.00007161505],"category_scores_gemma":[0.0001176391,0.0002174678,0.0001709977,0.0006248133,0.0001963426,0.00009267123,0.00006821551,0.000379419,0.00002320665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008116006,"about_ca_system_score_gemma":0.0001943212,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001186354,"about_ca_topic_score_gemma":0.00001538192,"domain_scores_codex":[0.9981278,0.00005056569,0.00051516,0.0004332766,0.0004213871,0.0004518279],"domain_scores_gemma":[0.9987965,0.00007488153,0.0001963817,0.0005844393,0.000113333,0.0002345092],"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":[0.00007454903,0.0005331248,0.004021544,0.00007457841,0.0001044055,0.00002054465,0.0006304182,0.0001054716,0.9702429,0.001204136,0.01745612,0.005532227],"study_design_scores_gemma":[0.02905834,0.001412812,0.1597367,0.001090947,0.001561053,0.001731718,0.001893545,0.008416225,0.7080953,0.001188246,0.08409256,0.00172259],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9785347,0.002448629,0.0006141742,0.006263872,0.0002145823,0.0008302053,0.0001051619,0.0001045545,0.01088411],"genre_scores_gemma":[0.9945475,0.0003045124,0.001250939,0.002048636,0.00006927503,0.00001414538,0.00006021716,0.00003432227,0.001670456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2621476,"threshold_uncertainty_score":0.8868078,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007614503968221801,"score_gpt":0.2470098773915635,"score_spread":0.2393953734233417,"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."}}