{"id":"W2472289203","doi":"10.1097/mbc.0000000000000587","title":"Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency","year":2016,"lang":"en","type":"article","venue":"Blood Coagulation & Fibrinolysis","topic":"Blood properties and coagulation","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institut Universitaire de Cardiologie et de Pneumologie de Québec; Université Laval","funders":"","keywords":"Minigene; RNA splicing; Exon; Genetics; Intron; Gene; Gene duplication; Splice site mutation; splice; Biology; Alternative splicing; Tandem exon duplication; Coding region; Molecular biology; 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":[0.0001231453,0.0006082284,0.000512411,0.0004497405,0.0003235497,0.0001714227,0.000288936,0.0007356994,0.002221862],"category_scores_gemma":[0.0003222967,0.0001589072,0.0003867923,0.0004792029,0.0004895689,0.0001136699,0.0002929673,0.0005351239,0.0006005768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002867857,"about_ca_system_score_gemma":0.0002560831,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004704841,"about_ca_topic_score_gemma":0.0004596405,"domain_scores_codex":[0.9998159,0.00002427287,0.00002465857,0.00006217393,0.00004538209,0.00002760289],"domain_scores_gemma":[0.9998524,0.00003896454,0.00004953929,0.00001299132,0.000007297213,0.0000387824],"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":[0.001104597,0.0003069225,0.03020038,0.000276792,0.0001787157,0.25226,0.0005278267,0.0007212881,0.6869397,0.001021045,0.000987432,0.02547532],"study_design_scores_gemma":[0.0002603805,0.001101871,0.1150726,0.00006487417,0.0002907625,0.6386932,0.0002154466,0.002238935,0.2290308,0.000826384,0.01215037,0.00005441608],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964689,0.0006013334,0.001548682,0.0001642175,0.00005148784,0.0000225975,0.0002787468,0.00009217657,0.0007718726],"genre_scores_gemma":[0.9960684,0.000327603,0.001686267,0.0001118991,0.00004500824,0.00001412507,0.0003315699,0.00002864362,0.001386439],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002221862,"threshold_uncertainty_score":0.007432818,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03361783642890415,"score_gpt":0.2495818349873624,"score_spread":0.2159639985584582,"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."}}