{"id":"W2549164273","doi":"10.1182/blood.v126.23.3458.3458","title":"Novel RUNX1 Mutation in a Family with an Uncharacterized Secretion Defect","year":2015,"lang":"en","type":"article","venue":"Blood","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; McMaster University","funders":"","keywords":"Exome sequencing; Sanger sequencing; Blood Platelet Disorders; Platelet disorder; Platelet; Medicine; Internal medicine; Biology; Genetics; Gastroenterology; Immunology; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002688502,0.001451452,0.0006253661,0.001466851,0.001289761,0.0004962894,0.0006747536,0.001655623,0.0025838],"category_scores_gemma":[0.001238054,0.0003477522,0.0008024976,0.0008814865,0.0009315077,0.0003190253,0.0005418801,0.0007072263,0.0004650492],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006545428,"about_ca_system_score_gemma":0.0005045879,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001531395,"about_ca_topic_score_gemma":0.001454253,"domain_scores_codex":[0.9996285,0.00003596113,0.0000367566,0.0001526838,0.00008476125,0.00006139345],"domain_scores_gemma":[0.9993694,0.0002145631,0.0001464305,0.00003128747,0.00003969109,0.0001986323],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001836661,0.0001190409,0.02683241,0.00004424377,0.00003849017,0.9509591,0.000651015,0.0002091767,0.01730956,0.0003350783,0.0004039904,0.002914157],"study_design_scores_gemma":[0.00007983331,0.0003326673,0.0431341,0.00002864608,0.00009168249,0.9465184,0.0002295145,0.0008588883,0.006686819,0.0003028225,0.001705738,0.00003089273],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970933,0.0003076848,0.00078822,0.0003562145,0.0000455418,0.00003779496,0.0002578203,0.00005226026,0.001061187],"genre_scores_gemma":[0.9985988,0.0001164397,0.0004904699,0.0000740276,0.00006310901,0.00001131672,0.00009739825,0.00001147824,0.0005370956],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0025838,"threshold_uncertainty_score":0.008643687,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02601053863794833,"score_gpt":0.2590670581617794,"score_spread":0.2330565195238311,"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."}}