{"id":"W1974080842","doi":"10.3109/03630269.2012.763171","title":"Normal Hb A<sub>2</sub>β-Thalassemia Trait: Frameshift Mutation (<i>HBB</i>: c.187_251dup) in<i>Cis</i>with the Hb A<sub>2’</sub>δ-Globin Gene Missense Mutation (<i>HBD</i>: c.49G&gt;C)","year":2013,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"","keywords":"Missense mutation; Genetics; Frameshift mutation; Mutation; Exon; Biology; Gene; Molecular biology; Thalassemia; Gene duplication","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":[0.001065535,0.001255219,0.001448348,0.0006065457,0.0005787115,0.0003209042,0.000545395,0.001104644,0.0002108296],"category_scores_gemma":[0.0003003549,0.0009188669,0.0005635043,0.002105137,0.0005149407,0.0008387491,0.0001650187,0.001879826,0.001133907],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005091416,"about_ca_system_score_gemma":0.0007325385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004519848,"about_ca_topic_score_gemma":0.0003746371,"domain_scores_codex":[0.9928287,0.000498095,0.001669532,0.00150503,0.001584545,0.001914154],"domain_scores_gemma":[0.9960642,0.0004754887,0.0007141271,0.001288936,0.0006513308,0.0008059401],"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":[0.001883927,0.0015483,0.00277249,0.0005767865,0.0006531918,0.003148864,0.006184276,0.004025161,0.8833374,0.0005256041,0.02233029,0.07301368],"study_design_scores_gemma":[0.02397411,0.002227365,0.07804327,0.001351715,0.001364943,0.007874733,0.006259302,0.01453715,0.8549347,0.001175827,0.005198054,0.00305886],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9780613,0.001534906,0.002341416,0.01005781,0.0005886311,0.003917813,0.00007247266,0.0004764062,0.002949271],"genre_scores_gemma":[0.9917264,0.000513236,0.001301095,0.004432776,0.000412059,0.0006013972,0.0005041074,0.0002646522,0.0002442787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07527079,"threshold_uncertainty_score":0.9996438,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005196975587987192,"score_gpt":0.204184863074927,"score_spread":0.1989878874869399,"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."}}