{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000335181,0.000305732,0.0005770915,0.0003094949,0.0002613051,0.0002414602,0.00006300219,0.000136039,0.0001053274],"category_scores_gemma":[0.000251305,0.0002494437,0.00009631756,0.0005129535,0.00009729304,0.0002667563,0.00008399787,0.0002518136,0.00003258542],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001096289,"about_ca_system_score_gemma":0.00007209897,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001332983,"about_ca_topic_score_gemma":0.00001141514,"domain_scores_codex":[0.9981079,0.00004930994,0.0004737112,0.0005962818,0.0003573935,0.000415478],"domain_scores_gemma":[0.9988489,0.00039352,0.00006960845,0.0002277633,0.0001058609,0.0003544156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001621822,0.0003242357,0.01300831,0.002151951,0.0007621501,0.001979431,0.01589627,0.0001078503,0.868933,0.0007697947,0.0007335529,0.09517128],"study_design_scores_gemma":[0.01008793,0.001265724,0.6006344,0.007691399,0.0007184872,0.01584252,0.005079052,0.07325347,0.2700922,0.001526789,0.01064504,0.003162977],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911601,0.0004444158,0.004398012,0.002750694,0.000166569,0.0006644779,0.0000989766,0.0001639337,0.0001528417],"genre_scores_gemma":[0.9969145,0.00004993532,0.002053401,0.0004197709,0.0001493413,0.00002717181,0.00006576286,0.00006844139,0.0002516618],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5988408,"threshold_uncertainty_score":0.9999958,"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."}}