{"id":"W1966765074","doi":"10.1002/ajh.10423","title":"β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis","year":2003,"lang":"en","type":"article","venue":"American Journal of Hematology","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; McMaster University; Hamilton Regional Laboratory Medicine Program; McMaster University Medical Centre","funders":"","keywords":"Hemoglobinopathy; Hydrops fetalis; Missense mutation; Genetic counseling; Thalassemia; Genetics; Medicine; Mutation; Prenatal diagnosis; Beta thalassemia; Hemolytic anemia; Pediatrics; Fetus; Gene; Biology; Internal medicine; Pregnancy","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":[0.0001974684,0.0005895082,0.0002261845,0.0005590328,0.0008403306,0.0004648491,0.0003637712,0.001008358,0.002033989],"category_scores_gemma":[0.001734937,0.0002592052,0.000181122,0.0003857628,0.0007356612,0.0003416545,0.0003563625,0.0007441736,0.0003345665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001659478,"about_ca_system_score_gemma":0.0001955003,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001563578,"about_ca_topic_score_gemma":0.001877288,"domain_scores_codex":[0.9998317,0.00004082764,0.00002106204,0.00003019536,0.00002726956,0.00004890704],"domain_scores_gemma":[0.9993885,0.0002501163,0.0001782816,0.00003834726,0.00002616787,0.0001186234],"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":[0.0001154957,0.00007308669,0.1348903,0.00002704314,0.00001387865,0.8502936,0.0006361468,0.000151289,0.004396021,0.0003720317,0.0004706967,0.008560459],"study_design_scores_gemma":[0.00001804905,0.00009984771,0.03453207,0.00001427797,0.00003984536,0.9621925,0.000312634,0.0004678633,0.001062301,0.0002844367,0.0009643659,0.00001180144],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967128,0.000447621,0.000467126,0.00046126,0.0000277487,0.00001401635,0.00001933974,0.00002514316,0.001824922],"genre_scores_gemma":[0.9986556,0.0002599399,0.0004743855,0.0001302759,0.00008121155,0.000004253875,0.00001813774,0.000006110899,0.0003701379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002033989,"threshold_uncertainty_score":0.006804347,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007806648338934649,"score_gpt":0.256900893446222,"score_spread":0.2490942451072873,"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."}}