{"id":"W2096480091","doi":"10.1182/blood-2006-05-021105","title":"The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study","year":2006,"lang":"en","type":"article","venue":"Blood","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":351,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Queen's University","funders":"Canadian Institutes of Health Research; Heart and Stroke Foundation of Canada; CSL Behring Foundation for Research and Advancement of Patient Health","keywords":"Von Willebrand disease; Missense mutation; Genetics; Nonsense mutation; Von Willebrand factor; Biology; Mutation; Gene; Point mutation; Genotype; Immunology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005453214,0.00006426436,0.0001200471,0.00003070241,0.00008168964,0.000008906853,0.00003744262,0.0000182712,0.00003380246],"category_scores_gemma":[0.00005676834,0.00004252138,0.00002731491,0.00008810019,0.00002562214,0.00001457143,0.000005336672,0.00003735698,0.00001804299],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000189128,"about_ca_system_score_gemma":0.0002024541,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.1245332,"about_ca_topic_score_gemma":0.1781807,"domain_scores_codex":[0.9994238,0.00001511852,0.000140439,0.0001300799,0.0001681985,0.0001223717],"domain_scores_gemma":[0.9996018,0.00005396088,0.00004856186,0.0001674709,0.00003197659,0.00009626852],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002886333,0.0008400948,0.9968307,0.000001708392,0.0002657633,0.0006104452,0.00005537187,0.00000494705,0.00001289434,0.00004825486,0.0009595267,0.00008166762],"study_design_scores_gemma":[0.005345083,0.0001377904,0.9924917,0.00001066911,0.0003508049,0.000006150546,0.00004794004,0.00001908566,0.00006736242,0.0006816392,0.0008011204,0.00004068385],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933346,0.0005203909,1.955458e-7,0.0007104092,0.00005024856,0.0004150428,0.0002493763,0.000008672007,0.00471109],"genre_scores_gemma":[0.9987448,0.00001513773,0.00001531641,0.00002927344,0.00005514169,0.000008816069,0.00040726,0.000007188693,0.0007170519],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05364754,"threshold_uncertainty_score":0.8812966,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005430206729530021,"score_gpt":0.2215359803572556,"score_spread":0.2161057736277256,"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."}}