{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008977298,0.0001497153,0.000282112,0.00003128271,0.00007717141,0.00001931187,0.0009200937,0.0001133169,0.00007379922],"category_scores_gemma":[0.001011043,0.00008691024,0.0001323031,0.0001419745,0.001114706,0.000003042722,0.000197713,0.0003903708,0.000004743629],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000613808,"about_ca_system_score_gemma":0.0004757812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001974826,"about_ca_topic_score_gemma":0.000049045,"domain_scores_codex":[0.9980557,0.0001010126,0.0005581514,0.000168644,0.0008392008,0.0002772922],"domain_scores_gemma":[0.9983383,0.00009590592,0.0005624975,0.0004458522,0.0002334521,0.0003239522],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001081972,0.0005476029,0.02013439,0.00006307405,0.001001756,0.0001822674,0.000308249,0.0001156729,0.38393,0.001103334,0.019668,0.5718637],"study_design_scores_gemma":[0.001506476,0.005790133,0.02119124,0.0001122444,0.000167815,0.0009733046,0.0004416651,0.0001398174,0.5362143,0.0005312513,0.4324964,0.0004353451],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877094,0.008054254,0.001525177,0.001637056,0.0008747525,0.0001148642,0.00003171264,0.000003939873,0.0000488568],"genre_scores_gemma":[0.9945925,0.002852238,0.001791801,0.0002393377,0.0004275636,0.00000449274,0.000009502409,0.00002283706,0.00005965761],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5714284,"threshold_uncertainty_score":0.410718,"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."}}