{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004187029,0.0005911387,0.001033854,0.0002879578,0.0009451854,0.0006434083,0.0005172872,0.006031058,0.00127282],"category_scores_gemma":[0.00148997,0.0002396983,0.0009566306,0.0001883352,0.000705693,0.0003913851,0.0002936622,0.003694634,0.000515417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009036186,"about_ca_system_score_gemma":0.0005525121,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009415048,"about_ca_topic_score_gemma":0.002139942,"domain_scores_codex":[0.9997399,0.00006131199,0.00003602102,0.0000394496,0.00005325369,0.00007001589],"domain_scores_gemma":[0.9995018,0.0002285298,0.00003590359,0.00002408523,0.00003196528,0.000177769],"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":[0.004178345,0.0006589795,0.02006564,0.0002019567,0.0001976852,0.8571782,0.0003326174,0.0007615765,0.02072463,0.003722639,0.05232129,0.03965646],"study_design_scores_gemma":[0.005972537,0.004979749,0.09391415,0.000566057,0.00088911,0.7096999,0.000504692,0.01087906,0.01259206,0.01052692,0.149216,0.0002597311],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5233099,0.0158824,0.003010233,0.375751,0.02523572,0.0002644257,0.0004012844,0.000411545,0.05573345],"genre_scores_gemma":[0.8800341,0.004971552,0.001661367,0.07741766,0.02238558,0.0001459963,0.0002052881,0.00004069385,0.01313775],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006031058,"threshold_uncertainty_score":0.006556273,"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."}}