{"id":"W4388598032","doi":"10.1016/j.rpth.2023.101382","title":"PB0246 FXIII Deficiency: A Genetic Diagnostic Dilemma","year":2023,"lang":"en","type":"article","venue":"Research and Practice in Thrombosis and Haemostasis","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Queen's University; Health Sciences North; Hospital for Sick Children","funders":"","keywords":"Dilemma; Genetics; Biology; Philosophy; Epistemology","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":[0.001036128,0.0008611661,0.0007161474,0.001456534,0.0009099936,0.001367218,0.001316679,0.003770169,0.003383444],"category_scores_gemma":[0.00590787,0.0003648079,0.0002972347,0.0007838036,0.001365734,0.001671617,0.001060104,0.003028149,0.001789589],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005524463,"about_ca_system_score_gemma":0.0008272278,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009479843,"about_ca_topic_score_gemma":0.0006565549,"domain_scores_codex":[0.9991245,0.0002405859,0.0001463798,0.0001727809,0.0001972383,0.0001185331],"domain_scores_gemma":[0.997713,0.001109076,0.0003599033,0.0001501411,0.000302604,0.0003653866],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.00006246647,0.0000349709,0.01905014,0.0001614574,0.00001095916,0.9480025,0.0002766916,0.0001524288,0.0009932639,0.002639876,0.01096021,0.01765509],"study_design_scores_gemma":[0.00001032605,0.00002224249,0.00203966,0.0001899072,0.00001156551,0.9862949,0.0003101027,0.000318494,0.0002794761,0.002137433,0.008376717,0.000009110394],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6407902,0.06121455,0.02071198,0.1957012,0.004306409,0.0003771362,0.001469008,0.0007733721,0.0746562],"genre_scores_gemma":[0.9430351,0.01768373,0.0141336,0.01478707,0.005852057,0.0000903298,0.0006277245,0.0001016392,0.00368884],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003770169,"threshold_uncertainty_score":0.0113188,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1452928615529707,"score_gpt":0.451088044193888,"score_spread":0.3057951826409173,"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."}}