{"id":"W1995317558","doi":"10.3109/03630269.2010.486341","title":"Codon 24 (TA<i>T</i>&gt;TA<i>G</i>) and Codon 32 (A<i>T</i>G&gt;A<i>G</i>G) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening","year":2010,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"European Commission","keywords":"Transversion; Genetics; Proband; Population; Mutation; Newborn screening; Point mutation; Genotype; Thalassemia; Microcytic anemia; Molecular biology; Biology; Rotterdam Study; Gene; Hemoglobin; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0001023332,0.0005432299,0.0001499093,0.0003322265,0.0003324936,0.000241626,0.0002052817,0.0007415377,0.001406358],"category_scores_gemma":[0.0005042285,0.0001158115,0.0001166831,0.0001736926,0.0004581428,0.0001673957,0.0001808069,0.0003057778,0.0003920668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002185903,"about_ca_system_score_gemma":0.0001398968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001057308,"about_ca_topic_score_gemma":0.001481346,"domain_scores_codex":[0.999892,0.00002212704,0.00001244176,0.00003493157,0.00001936062,0.00001917498],"domain_scores_gemma":[0.9998085,0.00006993006,0.00006149105,0.00001087841,0.00001776868,0.00003141491],"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":[0.0004136661,0.0001483955,0.1423009,0.0002282616,0.00006136829,0.6605946,0.002188266,0.0005176421,0.139004,0.0009144193,0.001196462,0.05243201],"study_design_scores_gemma":[0.00002483223,0.0004604685,0.1206322,0.00006255373,0.00006882616,0.8361632,0.0004340518,0.0006397718,0.02889525,0.000314207,0.0122769,0.00002768255],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964126,0.001156213,0.0005267782,0.0001459666,0.00003320008,0.000009294118,0.00005258862,0.00001708322,0.001646176],"genre_scores_gemma":[0.9967287,0.0007066043,0.0008980695,0.00008673463,0.00003151153,0.000006293134,0.00006527702,0.000007287018,0.001469543],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001406358,"threshold_uncertainty_score":0.004704773,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01422543806446027,"score_gpt":0.2470512933790745,"score_spread":0.2328258553146142,"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."}}