{"id":"W3013079472","doi":"10.1111/cge.13746","title":"Overlapping phenotypes between <scp>SHORT</scp> and Noonan syndromes in patients with <scp><i>PTPN11</i></scp> pathogenic variants","year":2020,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Alberta Children's Hospital; University of Calgary","funders":"","keywords":"PTPN11; Noonan syndrome; Costello syndrome; Phenotype; Genetics; Biology; Missense mutation; MAPK/ERK pathway; Cancer research; Mutation; Gene; Kinase; KRAS","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003124909,0.0003762268,0.0005594768,0.00004132169,0.00008784152,0.00006204988,0.000428378,0.0003854282,0.000003136591],"category_scores_gemma":[0.001582903,0.0003527992,0.0001171753,0.0002425511,0.0003267638,0.00001133258,0.0005333202,0.000332967,0.00002050471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001369929,"about_ca_system_score_gemma":0.0001461122,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007467943,"about_ca_topic_score_gemma":0.00001294737,"domain_scores_codex":[0.9972394,0.0001820488,0.0007710054,0.0009422639,0.0003045542,0.0005608026],"domain_scores_gemma":[0.9983734,0.0003136366,0.0002086542,0.0005394887,0.0001231683,0.0004416498],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002685178,0.0001800882,0.9837524,0.00006409749,0.0001618496,0.00001919794,0.00006999536,0.00004274187,0.002811921,0.00003449863,0.001404107,0.01143223],"study_design_scores_gemma":[0.002017759,0.001948652,0.9645072,0.00005857216,0.00012223,0.000003176857,0.00004702183,0.00006829019,0.01591483,0.0001328876,0.01503875,0.0001406057],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904939,0.007648137,0.0006692254,0.00007527945,0.0001248784,0.0005584627,0.0002635799,0.00003036692,0.0001361959],"genre_scores_gemma":[0.9937736,0.001073338,0.003266331,0.000899316,0.000397953,0.00002373435,0.0004472133,0.00007375278,0.00004473203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01924521,"threshold_uncertainty_score":0.9998924,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02884993184242377,"score_gpt":0.275625519790353,"score_spread":0.2467755879479293,"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."}}