{"id":"W2084224210","doi":"10.1038/ng.884","title":"Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome","year":2011,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":275,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto","funders":"National Center for Research Resources; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research","keywords":"Biology; Gene; Intron; Genetics; RNA; Platelet; genomic DNA; Platelet activation; Messenger RNA; Computational biology; Immunology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008310205,0.0008199637,0.0003623727,0.000581786,0.0003667891,0.0003175206,0.0003015208,0.0009969501,0.002667769],"category_scores_gemma":[0.0005219822,0.000163024,0.0002657109,0.0004140599,0.0007363756,0.0002306278,0.0004836333,0.0006803838,0.000419873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004021075,"about_ca_system_score_gemma":0.0002061681,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001266074,"about_ca_topic_score_gemma":0.001192775,"domain_scores_codex":[0.9998854,0.00001308423,0.00001022862,0.00003197502,0.00003711085,0.0000222047],"domain_scores_gemma":[0.9997814,0.00007773127,0.00005015808,0.00001195778,0.00001120357,0.00006757011],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001413532,0.0001184439,0.03217906,0.0001788744,0.0002255348,0.4806256,0.0004623424,0.0008367011,0.4469596,0.003172455,0.004253548,0.02957442],"study_design_scores_gemma":[0.0004822946,0.0003973018,0.08570778,0.00008114713,0.0003997299,0.7431086,0.0005648084,0.00552997,0.1452165,0.004417724,0.01402207,0.00007211554],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.987171,0.00144946,0.003713297,0.001164423,0.0001145745,0.00002897606,0.0004038559,0.0001709631,0.005783416],"genre_scores_gemma":[0.9971944,0.0002587625,0.001204291,0.0001564065,0.00003195752,0.000008253666,0.0001701794,0.00002864801,0.0009471108],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002667769,"threshold_uncertainty_score":0.008924544,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02183535278960413,"score_gpt":0.2750773826088396,"score_spread":0.2532420298192354,"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."}}