{"id":"W4401471495","doi":"10.1111/hae.15087","title":"Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys","year":2024,"lang":"en","type":"article","venue":"Haemophilia","topic":"Hemostasis and retained surgical items","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Providence Health Care; Canadian Blood Services; University of British Columbia; St. Paul's Hospital; University of British Columbia Hospital","funders":"Centre for Blood Research, University of British Columbia; Canadian Blood Services; Heart and Stroke Foundation of Canada","keywords":"Bleeding diathesis; Compound heterozygosity; Medicine; Platelet disorder; Exon; Antigen; Missense mutation; Phenotype; Coagulopathy; Mutation; Immunology; Factor V; Platelet; Molecular biology; Internal medicine; Genetics; Gene; Biology; Thrombosis","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001772116,0.001561055,0.0004562311,0.0007500255,0.0004833477,0.0003862212,0.0004556476,0.001583504,0.002168879],"category_scores_gemma":[0.0006535583,0.0002187241,0.0003688698,0.0004899919,0.000567469,0.0002742271,0.0003603191,0.000768913,0.0004589685],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004857988,"about_ca_system_score_gemma":0.0002806173,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008176164,"about_ca_topic_score_gemma":0.0006151136,"domain_scores_codex":[0.9997374,0.00003094496,0.00003854184,0.00008317347,0.00005588083,0.00005404103],"domain_scores_gemma":[0.9996454,0.00009600685,0.0001115671,0.00001328249,0.00002108162,0.0001127599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007509464,0.0002229776,0.02388119,0.00009405383,0.0001027208,0.8792312,0.0003002154,0.0004055536,0.08859512,0.0008871297,0.0009514187,0.004577571],"study_design_scores_gemma":[0.0001061402,0.0006689432,0.04015119,0.00001537519,0.00008484547,0.9355818,0.00006774219,0.001277035,0.01998638,0.0002292301,0.001807674,0.00002359829],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966581,0.0004262868,0.0007504698,0.000375085,0.00005547395,0.00002767804,0.0003107941,0.00006903608,0.00132709],"genre_scores_gemma":[0.9983857,0.0001092755,0.0004276721,0.00008018107,0.00007502398,0.000005933145,0.0001902395,0.00001392495,0.000712065],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002168879,"threshold_uncertainty_score":0.007255673,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07048525751521859,"score_gpt":0.3114522226657765,"score_spread":0.2409669651505579,"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."}}