{"id":"W2943825782","doi":"10.1016/j.jacc.2019.01.066","title":"Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition","year":2019,"lang":"en","type":"letter","venue":"Journal of the American College of Cardiology","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":179,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Heart, Lung, and Blood Institute; Bundesministerium für Bildung und Forschung","keywords":"Noonan syndrome; Medicine; Hypertrophic cardiomyopathy; Germline; Costello syndrome; Mutation; Cardiomyopathy; Internal medicine; Germline mutation; PTPN11; MAPK/ERK pathway; Cancer research; Endocrinology; Cardiology; Gene; Genetics; Kinase; Heart failure; Cancer; KRAS; Biology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003995898,0.0003616206,0.001642245,0.0002148416,0.00003363131,0.000006049717,0.0006789629,0.0004425969,0.000003591629],"category_scores_gemma":[0.0002410709,0.0002661741,0.0008332609,0.0003474451,0.0005222791,0.000006569759,0.0002323452,0.0008993363,0.00000350417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001301782,"about_ca_system_score_gemma":0.000360981,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005219211,"about_ca_topic_score_gemma":0.000002685479,"domain_scores_codex":[0.9972757,0.00083472,0.0007893801,0.0003538711,0.0003597926,0.0003866102],"domain_scores_gemma":[0.9972227,0.0000883832,0.00163739,0.0007570224,0.000252182,0.00004229213],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003590283,0.0000166179,0.005177949,0.00005406238,0.0005240313,0.001418763,0.000001696385,0.0001855727,0.06854762,0.000003644359,0.9236142,0.00009679484],"study_design_scores_gemma":[0.002075111,0.003979169,0.006034825,0.0002786292,0.0004625542,0.01475574,0.00003066834,0.000003403856,0.1003978,0.0001093296,0.8712374,0.000635411],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8952811,0.01526194,0.0001160665,0.08414689,0.001073328,0.0007197162,0.003142592,0.000006139486,0.000252265],"genre_scores_gemma":[0.9588813,0.0008762509,0.0001290201,0.03782398,0.001517287,0.0000192844,0.00021768,0.00007858287,0.0004566217],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06360023,"threshold_uncertainty_score":0.999979,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005882458510925954,"score_gpt":0.2125884284329797,"score_spread":0.2067059699220538,"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."}}