{"id":"W1888320884","doi":"10.1055/s-0037-1613063","title":"Aberrant Splicing and Premature Termination of Transcription of the FVIII Gene as a Cause of Severe Canine Hemophilia A: Similarities with the Intron 22 Inversion Mutation in Human Hemophilia","year":2002,"lang":"en","type":"article","venue":"Thrombosis and Haemostasis","topic":"Hemophilia Treatment and Research","field":"Medicine","cited_by":83,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"Bayer Canada; Canadian Hemophilia Society; Canadian Blood Services; Canada Research Chairs; Heart and Stroke Foundation of Canada","keywords":"Intron; RNA splicing; Gene; Medicine; Genetics; Mutation; Transcription (linguistics); Biology; RNA","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002048145,0.0001429318,0.0003673671,0.0001273371,0.0001253948,0.000008775264,0.00006384935,0.00009978896,0.00005896355],"category_scores_gemma":[0.00002072392,0.00007787244,0.00005221839,0.0002856456,0.0003294762,0.000104552,0.00003198366,0.0001610402,1.638717e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004980244,"about_ca_system_score_gemma":0.00002543476,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000700551,"about_ca_topic_score_gemma":0.0003903128,"domain_scores_codex":[0.99896,0.00007966055,0.0002802757,0.0001827887,0.0003530115,0.0001442387],"domain_scores_gemma":[0.99942,0.00005523589,0.0001470624,0.0002140418,0.0001212135,0.00004243755],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008847502,0.001034335,0.1257841,0.003359842,0.0005963573,0.00003522494,0.04407229,0.0001311337,0.8037357,0.0006559418,0.0007797245,0.01893055],"study_design_scores_gemma":[0.00581468,0.001557449,0.5639168,0.001476456,0.0007500318,0.0001239107,0.004464749,0.001547853,0.4198318,0.0002883956,0.00003189179,0.0001960107],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938185,0.0005217668,0.000001468855,0.004722131,0.00001416354,0.0006619351,0.00002974048,0.000006305618,0.0002239469],"genre_scores_gemma":[0.9987174,0.0008538864,0.00008783626,0.00006131168,0.00001754826,0.00001140633,0.0000200674,0.0000131969,0.0002173754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4381327,"threshold_uncertainty_score":0.3175546,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04450216459636933,"score_gpt":0.2956124277086834,"score_spread":0.2511102631123141,"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."}}