{"id":"W2086452908","doi":"10.1002/ajmg.a.33518","title":"The face of Noonan syndrome: Does phenotype predict genotype","year":2010,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Cancer Institute; National Institutes of Health; Deutsche Forschungsgemeinschaft","keywords":"Noonan syndrome; PTPN11; KRAS; Costello syndrome; Genotype; Genetics; Phenotype; Mutation; 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":[],"consensus_categories":[],"category_scores_codex":[0.0002767201,0.0003612937,0.0002674005,0.000569184,0.0002274986,0.0003664178,0.0001891185,0.000560005,0.002843254],"category_scores_gemma":[0.003331311,0.0001721423,0.0001972725,0.0002160063,0.0003004049,0.0003807277,0.0002076761,0.0002425476,0.0006632765],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001088718,"about_ca_system_score_gemma":0.00007694172,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001356105,"about_ca_topic_score_gemma":0.001443864,"domain_scores_codex":[0.9998106,0.00004888503,0.00001542074,0.00004438799,0.00004810383,0.00003260373],"domain_scores_gemma":[0.9990938,0.0003880856,0.0002381792,0.00007049224,0.00009249317,0.0001169111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002171787,0.00002061613,0.9841036,0.00001322608,0.00001868639,0.003263132,0.0002322422,0.0001132097,0.003853659,0.00008740668,0.0002944481,0.007782478],"study_design_scores_gemma":[0.000007484276,0.0001126804,0.9819736,0.00001679952,0.00002900212,0.01546623,0.000345204,0.0007333718,0.0006909471,0.0001781003,0.0004375028,0.000009122477],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980184,0.0001259503,0.000111147,0.0001132809,0.00001539522,0.000002842577,0.00008271723,0.000003397793,0.001527076],"genre_scores_gemma":[0.9995171,0.00007975039,0.00008396908,0.00003122725,0.00001353522,0.000002118042,0.00006174004,0.000003659297,0.0002067907],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002843254,"threshold_uncertainty_score":0.00951165,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004616725518462036,"score_gpt":0.2517381872679394,"score_spread":0.2471214617494774,"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."}}