{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009749705,0.0008433428,0.000243414,0.0006607172,0.0003479631,0.0002479895,0.0002127078,0.0006764096,0.002894187],"category_scores_gemma":[0.0006289976,0.0001860946,0.000181858,0.0002507422,0.0004286056,0.0002348446,0.0002409471,0.0004395744,0.0006994329],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001514415,"about_ca_system_score_gemma":0.0002145039,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001050468,"about_ca_topic_score_gemma":0.0008587975,"domain_scores_codex":[0.9998435,0.00001966515,0.00001790696,0.00004753916,0.00004474361,0.00002673907],"domain_scores_gemma":[0.9997783,0.00005797479,0.0000577082,0.0000129137,0.0000231466,0.00007000074],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002275461,0.0002679298,0.07777533,0.00009450589,0.00004666893,0.8318813,0.0008854206,0.000151616,0.07044472,0.0007898482,0.003048082,0.014387],"study_design_scores_gemma":[0.00003271475,0.0002485744,0.04285289,0.00001294843,0.00002816753,0.9455917,0.000141897,0.0002128155,0.006892061,0.0002741321,0.003698522,0.00001350394],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9862522,0.0008932161,0.002619999,0.0004869758,0.0001539446,0.00005053358,0.0003230103,0.0001489235,0.00907114],"genre_scores_gemma":[0.9963153,0.0002708601,0.001009803,0.0002156877,0.00007760686,0.000009362579,0.0001854984,0.00002449963,0.001891445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002894187,"threshold_uncertainty_score":0.009682059,"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."}}