{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006880049,0.000161871,0.0002537607,0.000175131,0.00005149517,0.000009248069,0.00008081304,0.0003312152,0.00007089627],"category_scores_gemma":[0.00004827797,0.0001388362,0.00005424939,0.0002865815,0.00003722993,0.0000368518,0.00002362761,0.0005081084,0.00003506921],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005866388,"about_ca_system_score_gemma":0.00007267861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003907562,"about_ca_topic_score_gemma":0.0001105181,"domain_scores_codex":[0.999052,0.00001951477,0.0002032131,0.0002476475,0.0001968809,0.0002807059],"domain_scores_gemma":[0.999529,0.00001503969,0.00005285715,0.0002384296,0.0000558723,0.0001087848],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001354168,0.007893784,0.8057016,0.0008464061,0.002065454,0.09864833,0.01701719,0.00008349356,0.02034461,0.001805861,0.003325328,0.04091381],"study_design_scores_gemma":[0.01717585,0.002881481,0.879273,0.0007727773,0.0006687416,0.007174182,0.0008609892,0.0005160169,0.06927746,0.009683578,0.01045487,0.001261062],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930676,0.002344681,0.00002400411,0.0001155837,0.0001126037,0.0006966,0.00001919566,0.00004406798,0.003575678],"genre_scores_gemma":[0.9938158,0.00007919174,0.005283495,0.0002043873,0.00002288279,0.00005738291,0.0001068223,0.00002690103,0.0004031842],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09147415,"threshold_uncertainty_score":0.5661576,"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."}}