{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000148945,0.0002584509,0.0003525089,0.0003402425,0.0001694473,0.00005770116,0.00006701843,0.0001571191,0.0000493874],"category_scores_gemma":[0.00004323929,0.0001820791,0.0000617403,0.0005755904,0.00007172713,0.0004949797,0.0000365871,0.00009873095,0.00002660236],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001224082,"about_ca_system_score_gemma":0.00008258213,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004133614,"about_ca_topic_score_gemma":0.0002251259,"domain_scores_codex":[0.9981182,0.00006192047,0.0005009899,0.0005714701,0.0004324783,0.0003149262],"domain_scores_gemma":[0.9989049,0.00005675232,0.0002546574,0.0004331566,0.0002293139,0.0001212265],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001739482,0.00009842877,0.6567299,0.0000367702,0.00004012047,0.000003410343,0.0002209674,0.0001265857,0.3225439,0.0002182981,0.000002153852,0.01980547],"study_design_scores_gemma":[0.002450073,0.0003067873,0.9211295,0.0001780932,0.0003224441,0.00008696195,0.00003731036,0.002486978,0.07257411,0.00006656894,0.0001088076,0.0002524273],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893966,0.0003028915,0.008506824,0.0009275532,0.00002978608,0.0005906727,0.00001015363,0.0001262391,0.0001092645],"genre_scores_gemma":[0.9978563,0.0002220272,0.001289263,0.00007800866,0.0001153692,0.00007738733,0.00006372908,0.00003538285,0.0002625146],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2643995,"threshold_uncertainty_score":0.7424971,"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."}}