{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001972493,0.001375681,0.0005057983,0.001220895,0.00166906,0.0005767486,0.0006862564,0.002893613,0.001918395],"category_scores_gemma":[0.00156291,0.0007210521,0.0008713158,0.000748815,0.001554867,0.0006361282,0.0006107204,0.001563636,0.0006952805],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004529805,"about_ca_system_score_gemma":0.0004560141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00237532,"about_ca_topic_score_gemma":0.001709965,"domain_scores_codex":[0.9996744,0.0000381317,0.00003786145,0.0001118289,0.00005013526,0.00008757297],"domain_scores_gemma":[0.9991228,0.0002592629,0.0001752682,0.00005959675,0.0000435007,0.0003395917],"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":[0.00007928321,0.00009407862,0.01475143,0.00001476076,0.0000129358,0.9771349,0.0005010617,0.0001243841,0.005131833,0.0002290723,0.0004312513,0.00149513],"study_design_scores_gemma":[0.00002582945,0.0002072685,0.01072132,0.000005732189,0.00002371254,0.9864638,0.0001227167,0.000207701,0.001608825,0.0001477318,0.000449787,0.00001551392],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945378,0.0003023244,0.0008133696,0.0006933982,0.00008457887,0.00003402343,0.0001359579,0.00005324183,0.00334537],"genre_scores_gemma":[0.9980111,0.0001346701,0.0005791682,0.0003507491,0.0001292211,0.000008061228,0.00007221012,0.00001692292,0.0006978537],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002893613,"threshold_uncertainty_score":0.006417692,"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."}}