{"id":"W4391880412","doi":"10.1080/03630269.2024.2314075","title":"Splice Acceptor Mutation [ <i>HBB</i> :c.93-2A &gt; T] in a Patient with Hb S/β <sup>0</sup> -Thalassemia","year":2024,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"","keywords":"splice; Mutation; Thalassemia; RNA splicing; Compound heterozygosity; Genetics; Acceptor; Splice site mutation; Heterozygote advantage; Molecular biology; Biology; Chemistry; Gene; Physics; Allele; RNA","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"],"consensus_categories":[],"category_scores_codex":[0.000205167,0.0003722478,0.0004414401,0.0003193118,0.00008320525,0.00007246096,0.0001241886,0.0003189083,0.0004701378],"category_scores_gemma":[0.00006719934,0.0002830091,0.0001430331,0.001154035,0.0001037933,0.0002333562,0.00006406113,0.0006451528,0.0005770161],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003490108,"about_ca_system_score_gemma":0.0003494516,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000183325,"about_ca_topic_score_gemma":0.00003162115,"domain_scores_codex":[0.9976062,0.00006685061,0.0005187365,0.0006648134,0.0005338952,0.0006095102],"domain_scores_gemma":[0.9990581,0.0000974069,0.00006981375,0.0004125887,0.00009753772,0.000264574],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004838205,0.004488986,0.03223814,0.006635958,0.001580718,0.03567088,0.05365958,0.01634627,0.02299733,0.006277028,0.2071872,0.6080797],"study_design_scores_gemma":[0.02229603,0.00693378,0.01155651,0.0102693,0.001427628,0.01152165,0.02755382,0.1207323,0.03347712,0.0008997624,0.7495237,0.003808356],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.969797,0.004890021,0.0001651192,0.002492852,0.0002627698,0.001028955,0.00002428068,0.0003602883,0.02097876],"genre_scores_gemma":[0.9956712,0.0003675271,0.000841417,0.001166631,0.000138828,0.0001141333,0.0001200319,0.00009162707,0.001488588],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6042714,"threshold_uncertainty_score":0.9999622,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005890410372379457,"score_gpt":0.2326914399856364,"score_spread":0.2268010296132569,"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."}}