{"id":"W3095237891","doi":"10.1182/blood-2020-133987","title":"Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia","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":"Hospital for Sick Children","funders":"","keywords":"Missense mutation; Platelet Glycoprotein GPIb-IX Complex; Platelet; Von Willebrand factor; Von Willebrand disease; Platelet disorder; Bernard–Soulier syndrome; Glycoprotein Ib; Platelet membrane glycoprotein; Genotype; Compound heterozygosity; Phenotype; Medicine; Genetics; Internal medicine; Immunology; Biology; Gene","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":[0.0001475668,0.0004190557,0.000301593,0.001737351,0.0002438942,0.0003152968,0.0002229474,0.0002842259,0.002261822],"category_scores_gemma":[0.0004530868,0.0001240638,0.0001998308,0.001128099,0.0001381977,0.0001389163,0.0003213903,0.0001813365,0.0003794818],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001002925,"about_ca_system_score_gemma":0.0001775745,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001519507,"about_ca_topic_score_gemma":0.001216126,"domain_scores_codex":[0.9998572,0.00001893504,0.00002629484,0.0000417991,0.00003390021,0.00002183473],"domain_scores_gemma":[0.9998701,0.00004814202,0.00002550744,0.00001295878,0.00002263281,0.00002066942],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008050818,0.0002017113,0.4774306,0.000937875,0.0004010704,0.1708487,0.001736496,0.0009081956,0.1707315,0.001353779,0.005616026,0.169029],"study_design_scores_gemma":[0.00003020427,0.0002241381,0.7758303,0.0001435538,0.0003232681,0.1949356,0.0002671878,0.0004595171,0.009568564,0.000462303,0.017718,0.00003727113],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9809586,0.007592563,0.002150242,0.0001904867,0.00002324773,0.0000544188,0.002875298,0.0001189773,0.006036065],"genre_scores_gemma":[0.9886419,0.004636623,0.001382422,0.0001510264,0.00003492165,0.00002133118,0.003728895,0.00003113968,0.001371814],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002261822,"threshold_uncertainty_score":0.007566512,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04394387723054756,"score_gpt":0.2457269666741884,"score_spread":0.2017830894436409,"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."}}