{"id":"W2980273922","doi":"10.1182/blood.v126.23.1203.1203","title":"Disrupted Expression of the Splicing Regulators Tra2-Beta and SRSF1 and Subsequent Aberrant Splicing of FLVCR1 Transcript As an Underlying Mechanism for the Erythropoietic Failure Observed in Diamond-Blackfan Anemia","year":2015,"lang":"en","type":"article","venue":"Blood","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Discovery Centre; Hospital for Sick Children","funders":"","keywords":"Diamond–Blackfan anemia; Biology; RNA splicing; Exon; Alternative splicing; GATA1; Erythropoiesis; Splicing factor; Intron; RNA-binding protein; Sideroblastic anemia; Mutation; Genetics; Cell biology; Gene; Gene expression; Anemia; RNA; Ribosome; Internal medicine; Medicine","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":[0.0001321318,0.0002983337,0.0001389613,0.0002622293,0.0001077916,0.0001394086,0.0001441151,0.0003348974,0.0007076768],"category_scores_gemma":[0.0001804432,0.000110557,0.0001867852,0.00008522825,0.0002599853,0.00006681553,0.0001407876,0.0003092265,0.0001759918],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001408992,"about_ca_system_score_gemma":0.00008907489,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000388992,"about_ca_topic_score_gemma":0.0003113472,"domain_scores_codex":[0.9998741,0.00002113629,0.00001780253,0.00003631118,0.00003239411,0.00001828392],"domain_scores_gemma":[0.9998813,0.0000266935,0.00004869264,0.000009425987,0.000008154656,0.0000257386],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008325348,0.00001776397,0.004222821,0.00001769448,0.00001112172,0.001984897,0.00002728781,0.00006445194,0.9923967,0.0001245982,0.000035645,0.001013702],"study_design_scores_gemma":[0.0000649377,0.0004976008,0.09907563,0.00001667414,0.00007001353,0.03590297,0.0001108387,0.0032617,0.8586571,0.0002366173,0.002092964,0.00001296811],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981243,0.0003502738,0.0011512,0.00003716239,0.000008614635,0.000006382644,0.00007864759,0.00002500184,0.0002185059],"genre_scores_gemma":[0.9990345,0.00009464171,0.0005237469,0.00002017511,0.000003757146,0.000005870598,0.00008670511,0.000004307286,0.0002262089],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007076768,"threshold_uncertainty_score":0.002367437,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0400989452091332,"score_gpt":0.2731364993570313,"score_spread":0.2330375541478981,"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."}}