{"id":"W2143963530","doi":"10.1136/jmg.2006.042796","title":"The cardiofaciocutaneous syndrome","year":2006,"lang":"en","type":"review","venue":"Journal of Medical Genetics","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":270,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Costello syndrome; PTPN11; Noonan syndrome; HRAS; Failure to thrive; Biology; Hypertelorism; KRAS; Cancer research; MAPK/ERK pathway; Mutation; Genetics; Medicine; Internal medicine; Kinase; 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":[0.0001070828,0.001369571,0.0003699386,0.001116334,0.0008135872,0.0004888307,0.0003504092,0.0007820014,0.0185994],"category_scores_gemma":[0.001247531,0.0001224351,0.0003335849,0.001062682,0.0005831965,0.0002739989,0.0007898039,0.0006126165,0.001637322],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005713282,"about_ca_system_score_gemma":0.0007351342,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004052032,"about_ca_topic_score_gemma":0.004211339,"domain_scores_codex":[0.9996772,0.00002900167,0.00001422337,0.0000938116,0.00009423376,0.0000916119],"domain_scores_gemma":[0.9997244,0.00005685511,0.00006427823,0.00001848413,0.00005522982,0.00008079962],"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":[0.0004303551,0.0001687491,0.09110329,0.001252315,0.0003234596,0.3962655,0.001018622,0.0009140889,0.05767471,0.02292061,0.0893512,0.3385771],"study_design_scores_gemma":[0.00008547928,0.00009838351,0.06124664,0.0003802561,0.0001481806,0.8065526,0.0002989988,0.0004444743,0.003561832,0.002300711,0.1248217,0.00006083081],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.5973143,0.04057938,0.01013095,0.005491974,0.00147858,0.0003418024,0.005990593,0.001809278,0.3368632],"genre_scores_gemma":[0.9614326,0.006783463,0.002971913,0.00181905,0.000294076,0.0001060185,0.001675827,0.0001139354,0.02480306],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.0185994,"threshold_uncertainty_score":0.06222117,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01812208958461606,"score_gpt":0.3241717965936134,"score_spread":0.3060497070089973,"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."}}