{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003188249,0.002225761,0.0008455906,0.002374003,0.00173796,0.0005158138,0.0006849566,0.001882835,0.005243533],"category_scores_gemma":[0.001943756,0.0005966395,0.0005663041,0.001880009,0.001269837,0.000564763,0.0006775238,0.0009407744,0.000571176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005315591,"about_ca_system_score_gemma":0.0006688935,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004164846,"about_ca_topic_score_gemma":0.00246924,"domain_scores_codex":[0.9994393,0.00008122035,0.00006281169,0.0002286197,0.0001018155,0.00008616196],"domain_scores_gemma":[0.999102,0.0003259447,0.0001863304,0.00003177791,0.00004886631,0.0003051475],"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":[0.0003202359,0.0001609242,0.08785198,0.0001170839,0.0001322312,0.8875933,0.001390479,0.0002006133,0.01520273,0.0004531193,0.0008511262,0.005726234],"study_design_scores_gemma":[0.00003281558,0.00021784,0.07377476,0.00003116772,0.0001021955,0.9221176,0.0002702042,0.0003674927,0.00156373,0.000229533,0.001259374,0.00003327359],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948548,0.001365173,0.001420526,0.0004259951,0.00006284171,0.00003990061,0.0004272427,0.00006643093,0.001337047],"genre_scores_gemma":[0.9974864,0.0004446128,0.0008905381,0.0001108845,0.0001099179,0.00001764793,0.0001598557,0.00001401758,0.0007660781],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005243533,"threshold_uncertainty_score":0.01754141,"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."}}