{"id":"W1564050656","doi":"10.1111/hae.12712","title":"Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen γ chain (γ322 Phe→Ile, Fibrinogen Beijing) and haemophilia B in a family","year":2015,"lang":"en","type":"article","venue":"Haemophilia","topic":"Blood properties and coagulation","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Foothills Medical Centre; University of Calgary","funders":"National Public Health Grand Research Foundation; Peking Union Medical College","keywords":"Fibrinogen; Proband; Coagulation; Medicine; Afibrinogenemia; Fibrinolysis; Thrombin time; Gene mutation; Molecular biology; Factor XIII; Haemophilia A; Internal medicine; Immunology; Endocrinology; Genetics; Haemophilia; Gene; Mutation; Partial thromboplastin time; Biology; Surgery","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004696868,0.0003754827,0.0006131559,0.0003427942,0.00007409331,0.00006161824,0.000115039,0.0002111077,0.00001771778],"category_scores_gemma":[0.000121032,0.0003379726,0.00006041478,0.0006145466,0.0001608554,0.0003093003,0.0001261268,0.0003053799,0.0000183768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002083271,"about_ca_system_score_gemma":0.0002819513,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001303923,"about_ca_topic_score_gemma":0.0006639219,"domain_scores_codex":[0.9975877,0.00007307195,0.000610519,0.0006594298,0.0005041758,0.000565102],"domain_scores_gemma":[0.9989101,0.00005929829,0.0001611877,0.0003644158,0.0001896157,0.0003153903],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004381765,0.0006674941,0.8196729,0.0006664153,0.0002731049,0.001939968,0.007668204,0.002226166,0.1188444,0.0005924348,0.0003775112,0.04268957],"study_design_scores_gemma":[0.01913389,0.002350045,0.9249116,0.001270651,0.0002777588,0.002433453,0.003498911,0.02616599,0.01684209,0.0004461816,0.001448789,0.001220654],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937088,0.001644253,0.0001534239,0.0005896969,0.00009191028,0.001047459,0.00003528578,0.00009065322,0.00263851],"genre_scores_gemma":[0.9961911,0.00002746034,0.002483058,0.0003143213,0.0002262761,0.0001041475,0.0001011308,0.00006958404,0.0004828656],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1052386,"threshold_uncertainty_score":0.9999073,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05148124210898605,"score_gpt":0.2624477539399482,"score_spread":0.2109665118309622,"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."}}