{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007357068,0.0005787017,0.000514657,0.00139228,0.002699626,0.0007034959,0.0005847385,0.0004766433,0.002004617],"category_scores_gemma":[0.001970193,0.0003831234,0.0005274889,0.002288343,0.0005380177,0.0002792147,0.0005960722,0.0004746393,0.000229464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006812853,"about_ca_system_score_gemma":0.007077728,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9426731,"about_ca_topic_score_gemma":0.9497523,"domain_scores_codex":[0.9992873,0.00005502559,0.00002930922,0.0001653672,0.0002532544,0.0002098067],"domain_scores_gemma":[0.9991137,0.00005538348,0.0001184351,0.00005485435,0.0004183929,0.0002392647],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002295777,0.00005812981,0.9883409,0.00002999295,0.00008324259,0.0006358302,0.001409579,0.0001198253,0.001156809,0.000132062,0.001186115,0.006617935],"study_design_scores_gemma":[0.00003010863,0.00005251112,0.9969559,0.00001556486,0.00005734958,0.0007430465,0.0005591996,0.0002240149,0.0001378411,0.00003328995,0.001173188,0.00001801593],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974896,0.0002001917,0.00008640845,0.0001234945,0.000005081709,0.00002995652,0.001073066,0.000005462766,0.0009867299],"genre_scores_gemma":[0.9983774,0.0002613725,0.0001636899,0.00005526312,0.000005198146,0.00001377056,0.0007136867,0.000005623056,0.000403987],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05732685,"threshold_uncertainty_score":0.1153288,"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."}}