{"id":"W2048803265","doi":"10.3109/03630260903333377","title":"α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G&gt;A and G&gt;T)","year":2009,"lang":"en","type":"article","venue":"Hemoglobin","topic":"Hemoglobinopathies and Related Disorders","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hamilton Regional Laboratory Medicine Program; McMaster University; Hamilton Health Sciences","funders":"","keywords":"Intron; Genetics; RNA splicing; Gene; Thalassemia; Globin; Biology; Mutation; splice; Molecular biology; Nucleotide; 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":[0.0002004325,0.0009532534,0.0002934344,0.0004560096,0.0002596915,0.0002669547,0.0002750831,0.0008388234,0.0009250776],"category_scores_gemma":[0.0006824258,0.0002301723,0.0002778539,0.0002575102,0.0007076879,0.0001448595,0.0003508121,0.0006207736,0.0002757745],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001966868,"about_ca_system_score_gemma":0.0001510094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003125106,"about_ca_topic_score_gemma":0.0003118475,"domain_scores_codex":[0.9998054,0.00004285052,0.00002777818,0.00005038289,0.00002989603,0.00004370392],"domain_scores_gemma":[0.9996212,0.00009845006,0.0001622726,0.00002260439,0.00001317253,0.00008223575],"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":[0.001891901,0.0009109735,0.1102067,0.0002248661,0.0002500971,0.5709049,0.001207712,0.0008612234,0.2818798,0.002371224,0.002154381,0.02713635],"study_design_scores_gemma":[0.0003985076,0.001575073,0.08584199,0.00004208664,0.00017194,0.8532358,0.0001782741,0.001118923,0.05097389,0.000952755,0.00545536,0.00005535192],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970381,0.0004960579,0.001308353,0.0001527138,0.000071651,0.00002463071,0.00007012282,0.00002854612,0.0008097745],"genre_scores_gemma":[0.9985141,0.0001962402,0.0007223905,0.000105475,0.00005768262,0.00001226315,0.00008602853,0.000004500464,0.0003011469],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009532534,"threshold_uncertainty_score":0.003094673,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007614503968221801,"score_gpt":0.2470098773915635,"score_spread":0.2393953734233417,"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."}}