{"id":"W2162058628","doi":"10.1081/hem-120002945","title":"DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG)","year":2002,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Royal University Hospital; St. Joseph's Hospital; Hamilton Regional Laboratory Medicine Program; McMaster University Medical Centre","funders":"","keywords":"Frameshift mutation; Thalassemia; Exon; Mutation; Hemoglobin; Genetics; Globin; Compound heterozygosity; Heterozygote advantage; Hemoglobinopathy; Biology; Hemolytic anemia; Molecular biology; Gene; Genotype; Biochemistry; Immunology","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":[0.00005885647,0.0005280773,0.0002463752,0.0002482694,0.0002068974,0.0001451829,0.000169546,0.000345062,0.002208042],"category_scores_gemma":[0.0001383638,0.00007960459,0.0002600612,0.0001811476,0.0002917386,0.00009179384,0.0001687749,0.0003128654,0.0009365652],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002216122,"about_ca_system_score_gemma":0.0002645499,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001461418,"about_ca_topic_score_gemma":0.00175194,"domain_scores_codex":[0.9999651,0.00000334216,0.000003340268,0.000009058581,0.000009309278,0.000009831778],"domain_scores_gemma":[0.9999598,0.000005937287,0.00001235272,0.000001523888,0.000004046775,0.00001627148],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0009357469,0.0003193806,0.03208755,0.0003245153,0.00008438075,0.2733596,0.0006387121,0.0001549893,0.5623142,0.003943608,0.01484561,0.1109917],"study_design_scores_gemma":[0.000307481,0.001303005,0.1096246,0.0001058406,0.0002218493,0.7827986,0.0002385836,0.0007820982,0.05472306,0.002047498,0.04779122,0.0000560129],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9629555,0.007537129,0.006941651,0.002317299,0.0007265854,0.000117823,0.001083535,0.0003828256,0.01793756],"genre_scores_gemma":[0.9837304,0.003136074,0.002565032,0.001297099,0.0001579935,0.00001401458,0.0004942642,0.00003159068,0.008573496],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002208042,"threshold_uncertainty_score":0.007386684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01508389171827286,"score_gpt":0.2532715788653322,"score_spread":0.2381876871470594,"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."}}