{"id":"W1991569711","doi":"10.1182/blood.v97.5.1330","title":"Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome","year":2001,"lang":"en","type":"article","venue":"Blood","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":173,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Hospital Foundation","funders":"","keywords":"Missense mutation; Bernard–Soulier syndrome; Platelet Glycoprotein GPIb-IX Complex; Compound heterozygosity; Platelet membrane glycoprotein; Von Willebrand factor; Platelet; Megakaryocyte; Medicine; Von Willebrand disease; Platelet disorder; Mutation; Internal medicine; Genetics; Pathology; Biology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005267463,0.0001793753,0.0005319556,0.0001172723,0.00002884219,0.00001003928,0.00009456954,0.0001087058,0.0003587852],"category_scores_gemma":[0.00002198716,0.0001497687,0.0000850965,0.0003186312,0.00005277029,0.00007097299,0.00004002971,0.0001198201,0.0001593816],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000356498,"about_ca_system_score_gemma":0.00007694528,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004831634,"about_ca_topic_score_gemma":0.00009709047,"domain_scores_codex":[0.998878,0.00001714899,0.0003069723,0.0002676951,0.000218897,0.0003112901],"domain_scores_gemma":[0.9994542,0.00001669667,0.00008228913,0.0002978253,0.00004670348,0.0001022787],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000985502,0.009028674,0.8661784,0.0001950255,0.001124908,0.06234943,0.001138008,0.000003801173,0.05577477,0.00005685534,0.0008594252,0.002305179],"study_design_scores_gemma":[0.04479901,0.00432044,0.8635586,0.0007331552,0.001025778,0.02395349,0.0001695285,0.00009359979,0.05476147,0.0005216703,0.005398282,0.0006649541],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946291,0.0007800942,0.000001884916,0.0003483903,0.00007063315,0.0004048729,0.0000296301,0.00002263042,0.003712717],"genre_scores_gemma":[0.9979051,0.0002433198,0.0003295868,0.0002887618,0.00001519886,0.0000166207,0.00002753609,0.00002891596,0.001144898],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04381351,"threshold_uncertainty_score":0.6107392,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01781398107634399,"score_gpt":0.2723961710821077,"score_spread":0.2545821900057638,"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."}}