{"id":"W2014379101","doi":"10.3109/03630269.2014.976417","title":"Non-Thalassemic Phenotype Associated With the -83 (G &gt; A) Mutation of the<b>β</b>-Globin Gene Promoter (<i>HBB</i>: c.-133G &gt; A)","year":2014,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hamilton Health Sciences; McMaster University; Hamilton Regional Laboratory Medicine Program","funders":"","keywords":"Heterozygote advantage; Thalassemia; Mutation; Genetics; Phenotype; Allele; Compound heterozygosity; Biology; Gene; Hemoglobinopathy; Genetic counseling; Molecular biology; Hemolytic anemia; 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":[0.0001087683,0.0004856412,0.0002054597,0.0004775344,0.0004917739,0.0002213716,0.0001534709,0.0003379659,0.003578124],"category_scores_gemma":[0.0008872046,0.0001618792,0.0001691714,0.0003372006,0.0004639697,0.0001477888,0.000238876,0.0002977571,0.0003771443],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009809959,"about_ca_system_score_gemma":0.0001982668,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007440594,"about_ca_topic_score_gemma":0.001279206,"domain_scores_codex":[0.9998696,0.00002568511,0.00001716639,0.00002872333,0.00002563453,0.00003323812],"domain_scores_gemma":[0.9994923,0.0001813362,0.000133745,0.00003619444,0.0000277121,0.0001286108],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005114164,0.0003256236,0.3650688,0.00009679217,0.00006842458,0.5643992,0.001050503,0.0002803872,0.05242837,0.001177995,0.001026068,0.01356639],"study_design_scores_gemma":[0.0000480601,0.0004945362,0.1852677,0.0000175752,0.00005086945,0.8059568,0.0002723327,0.0003134292,0.005652383,0.0004027977,0.001507674,0.000015786],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966529,0.000124147,0.0004211937,0.00005569354,0.00001219076,0.00001146385,0.00006162363,0.00001306606,0.002647701],"genre_scores_gemma":[0.9992959,0.00006272726,0.0001674422,0.00004047354,0.00002408909,0.000003278318,0.00003927053,0.000005355396,0.0003614337],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003578124,"threshold_uncertainty_score":0.01197004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005439156922322922,"score_gpt":0.2068157818518187,"score_spread":0.2013766249294958,"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."}}