{"id":"W4243344667","doi":"10.1182/blood.v110.11.709.709","title":"Novel VWF Sequence Variations Identified in Normal Controls and Index Cases Enrolled in the TS Zimmerman Program for the Molecular and Clinical Biology of VWD (ZPMCB-VWD).","year":2007,"lang":"en","type":"article","venue":"Blood","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Von Willebrand disease; Missense mutation; Genetics; Nonsense mutation; Mutation; Von Willebrand factor; Biology; Point mutation; Exon; Penetrance; Gene; Medicine; Phenotype; Immunology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003727101,0.0005467955,0.0006404265,0.002102522,0.0009773895,0.000653222,0.0004843689,0.0007571739,0.002353586],"category_scores_gemma":[0.003111508,0.0003197927,0.0002977631,0.001056932,0.000534446,0.0003026137,0.0003807385,0.000470428,0.0002751427],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005262119,"about_ca_system_score_gemma":0.0002558356,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006008865,"about_ca_topic_score_gemma":0.003622121,"domain_scores_codex":[0.9994075,0.0000838437,0.00006814923,0.0002257984,0.0001060473,0.0001086899],"domain_scores_gemma":[0.9992784,0.0001606963,0.0002002904,0.0000513132,0.00007320524,0.0002360803],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001865714,0.000656519,0.9744225,0.00003215266,0.00007875647,0.006553723,0.001151134,0.00009243662,0.009188323,0.0001877252,0.000521801,0.00524921],"study_design_scores_gemma":[0.00007557838,0.0007443674,0.9903169,0.000007551926,0.00005590782,0.006547791,0.000412811,0.0004326148,0.0009015474,0.00009111103,0.0004023302,0.00001149576],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994748,0.00005180851,0.00004671622,0.000007077235,0.000005018028,0.00001438808,0.0001369408,0.000004846878,0.0002584114],"genre_scores_gemma":[0.9993432,0.00003370077,0.00008414557,0.00001454516,0.000009218534,0.00001744669,0.0003256949,0.000003783979,0.0001683795],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006008865,"threshold_uncertainty_score":0.01194775,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03747667242296088,"score_gpt":0.3747064638350483,"score_spread":0.3372297914120874,"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."}}