{"id":"W4211144999","doi":"10.1002/9781119432692.ch41","title":"NOONAN SYNDROME","year":2020,"lang":"en","type":"other","venue":"","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Noonan syndrome; PTPN11; Short stature; Pectus carinatum; Pectus excavatum; Medicine; Costello syndrome; Variable Expression; KRAS; Genetics; Anatomy; Mutation; Internal medicine; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.00015844,0.001844049,0.0005446172,0.00100485,0.0009581919,0.0007158772,0.0005831262,0.0006995638,0.01872959],"category_scores_gemma":[0.001054244,0.0001425401,0.0002992247,0.0008399212,0.0005700752,0.0004359735,0.0007727686,0.000413578,0.002455389],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003328079,"about_ca_system_score_gemma":0.000531162,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002276274,"about_ca_topic_score_gemma":0.003248052,"domain_scores_codex":[0.9997651,0.00002317114,0.00001354636,0.000060919,0.00007486058,0.00006236068],"domain_scores_gemma":[0.9997352,0.00006236113,0.00005564894,0.00001859918,0.00003505319,0.00009310915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00110003,0.0002616647,0.04570457,0.001379358,0.000361746,0.5096409,0.001439471,0.001190724,0.07829618,0.04769826,0.04770079,0.2652263],"study_design_scores_gemma":[0.0001436427,0.0001874349,0.03988935,0.0005351977,0.0003289004,0.7435353,0.0004101246,0.0008372029,0.01019102,0.008001292,0.1958448,0.0000957669],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.5423915,0.027661,0.01374126,0.002198277,0.001241219,0.0002915759,0.004034354,0.001039434,0.4074014],"genre_scores_gemma":[0.8804346,0.007012296,0.004596444,0.001114411,0.0002227099,0.0001155808,0.001337507,0.0002000771,0.1049662],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.9812704,"threshold_uncertainty_score":0.06265676,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006205940419357219,"score_gpt":0.21754276575792,"score_spread":0.2113368253385628,"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."}}