{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003223404,0.0003269403,0.0005684547,0.0004040631,0.0001025629,0.00006049994,0.0001664428,0.0004054421,0.0007728959],"category_scores_gemma":[0.0003250639,0.0002946252,0.0001636037,0.0009608489,0.00006407223,0.0001608087,0.00007462997,0.0005299097,0.00176429],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002732495,"about_ca_system_score_gemma":0.00006408123,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005156582,"about_ca_topic_score_gemma":0.0002344333,"domain_scores_codex":[0.9975319,0.00008847153,0.0006463735,0.0005983934,0.0004661685,0.0006686787],"domain_scores_gemma":[0.9988231,0.00007787473,0.0001175877,0.0005185334,0.00009505261,0.0003678491],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.003118548,0.006997481,0.05921413,0.001980811,0.0005206969,0.02719942,0.03468401,0.002276981,0.2004646,0.002954932,0.3298976,0.3306909],"study_design_scores_gemma":[0.07651412,0.006099654,0.4070984,0.008810279,0.001297908,0.008801851,0.02099394,0.06387229,0.1328013,0.004232609,0.2629885,0.006489224],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9785206,0.001062577,0.0006799629,0.0056896,0.0005870904,0.001137836,0.00001001951,0.0001351833,0.01217713],"genre_scores_gemma":[0.9919292,0.000185781,0.001173515,0.001739286,0.0001268444,0.0000736643,0.00003683135,0.00005973738,0.004675146],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3478842,"threshold_uncertainty_score":0.9999506,"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."}}