{"id":"W1971469824","doi":"10.1159/000207992","title":"Heterozygous and Homozygous Factor XI Defect in a Consanguineous Family","year":2009,"lang":"en","type":"article","venue":"Acta Haematologica","topic":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital","funders":"","keywords":"Asymptomatic; Consanguineous Marriage; Consanguinity; Medicine; Heterozygote advantage; Pediatrics; Risk factor; Allele; Genetics; Internal medicine; Biology; Gene","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":[0.0003501953,0.001104553,0.000450661,0.001258085,0.001820583,0.0004525086,0.0003451742,0.0008855091,0.004044102],"category_scores_gemma":[0.002098407,0.0004681344,0.0003097996,0.0009300506,0.001003771,0.0003762609,0.0004496355,0.0007296983,0.0004380961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002259409,"about_ca_system_score_gemma":0.000418638,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004804921,"about_ca_topic_score_gemma":0.004649685,"domain_scores_codex":[0.999544,0.0001071166,0.00003860868,0.0001342634,0.00007598299,0.00009995886],"domain_scores_gemma":[0.9993954,0.0002333341,0.00008138247,0.00004722943,0.00004291451,0.0001998351],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004502685,0.0003205025,0.1271936,0.00007003182,0.0001120029,0.8457206,0.002242885,0.0002332536,0.01185989,0.001887798,0.001406332,0.008502848],"study_design_scores_gemma":[0.00009096091,0.0007094525,0.09812817,0.0000350504,0.0001528868,0.8935578,0.0009277366,0.0005681615,0.001858106,0.0009704279,0.002942909,0.00005830727],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950019,0.0007004935,0.0007746214,0.0003421606,0.00006063882,0.00002977655,0.0001748814,0.00003029795,0.002885265],"genre_scores_gemma":[0.998285,0.000264344,0.0003336008,0.0001226299,0.00005647123,0.000007565558,0.00005787716,0.00000868745,0.0008637281],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004804921,"threshold_uncertainty_score":0.01352894,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.023731773451108,"score_gpt":0.2758742416441787,"score_spread":0.2521424681930707,"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."}}