{"id":"W2109719605","doi":"10.1038/ejhg.2008.188","title":"Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome","year":2008,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":78,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Eye Institute; Deutsche Forschungsgemeinschaft","keywords":"Noonan syndrome; PTPN11; KRAS; Phenotype; Mutation; Biology; Genetics; Cancer research; Gene; Molecular 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":[0.0003457951,0.001870449,0.0009664383,0.003254921,0.001016814,0.0009071909,0.0009767193,0.002428072,0.00365835],"category_scores_gemma":[0.003843062,0.0007965455,0.000511009,0.001369146,0.001398777,0.0009702631,0.0009196922,0.0007427715,0.0004020458],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000457162,"about_ca_system_score_gemma":0.0004294702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00201571,"about_ca_topic_score_gemma":0.001991779,"domain_scores_codex":[0.9993789,0.00007708119,0.00009139,0.0001836959,0.0001427193,0.0001261712],"domain_scores_gemma":[0.9978184,0.0008085608,0.0006095652,0.0001061593,0.0001042982,0.0005530183],"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":[0.0007482776,0.00008648838,0.2567061,0.00005432561,0.00008126575,0.7253587,0.0006792375,0.0002476563,0.012673,0.0002256512,0.000273654,0.002865636],"study_design_scores_gemma":[0.00007213553,0.00017076,0.2197619,0.00001617285,0.0001110158,0.7774448,0.0004384067,0.000483925,0.0008386428,0.0003045744,0.0003196278,0.00003798435],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966297,0.0004588519,0.0002170914,0.0001771689,0.00003090584,0.00001589722,0.00008711081,0.00002491747,0.002358397],"genre_scores_gemma":[0.9993536,0.0001071268,0.0001419206,0.00005566734,0.00005634824,0.000005969834,0.00004494278,0.00000688182,0.0002275749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00365835,"threshold_uncertainty_score":0.01223844,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009072646034740799,"score_gpt":0.1919696680017255,"score_spread":0.1828970219669847,"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."}}