{"id":"W3095604609","doi":"10.1182/blood-2020-143155","title":"A Novel VWD Variant Identified in a Multi-Generational Canadian Ojibway Kindred with a Type 2B VWD Phenotypic Expression","year":2020,"lang":"en","type":"article","venue":"Blood","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"CancerCare Manitoba; University of Manitoba","funders":"","keywords":"Von Willebrand factor; Von Willebrand disease; Ristocetin; Genetics; Missense mutation; Compound heterozygosity; Phenotype; Bleeding diathesis; Hemostasis; Immunology; Platelet; Medicine; Biology; Gene; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001894622,0.001969493,0.0005236893,0.00300265,0.002777489,0.0009462133,0.001615164,0.001682842,0.003045203],"category_scores_gemma":[0.001297342,0.0005881747,0.0006184805,0.002369743,0.001690591,0.0003238963,0.001288948,0.001252232,0.0003683176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003497333,"about_ca_system_score_gemma":0.003305624,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2602258,"about_ca_topic_score_gemma":0.2889966,"domain_scores_codex":[0.9994652,0.00001547714,0.00003267599,0.0001362113,0.0002002453,0.0001502524],"domain_scores_gemma":[0.9994143,0.0001057522,0.0001231706,0.00003046242,0.00009161995,0.0002346205],"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":[0.0001012925,0.00005593573,0.02261348,0.00004077826,0.00003006419,0.9608925,0.00120376,0.0001093982,0.009402755,0.0004252816,0.0009577962,0.004166968],"study_design_scores_gemma":[0.0000267706,0.00005609248,0.06423782,0.00002400621,0.00004261004,0.9308967,0.0004057901,0.0002524649,0.001406233,0.00009464365,0.002520713,0.00003623164],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990689,0.0005044658,0.000664038,0.0005985682,0.00007669436,0.00008834263,0.0006747911,0.00005927894,0.00664484],"genre_scores_gemma":[0.9956695,0.0002761834,0.001167309,0.0002230526,0.00004497757,0.00001864349,0.0003260514,0.00003377871,0.002240411],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7397742,"threshold_uncertainty_score":0.5174223,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03500813971444329,"score_gpt":0.2452363421553893,"score_spread":0.210228202440946,"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."}}