{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002332448,0.0008970324,0.0004338173,0.0009205802,0.0004766201,0.0003742139,0.0002538907,0.0004934801,0.002074746],"category_scores_gemma":[0.001691326,0.0002113382,0.0003180029,0.000603809,0.0009194574,0.0002886758,0.000720393,0.0002806741,0.0001828599],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001717252,"about_ca_system_score_gemma":0.0002530376,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001058738,"about_ca_topic_score_gemma":0.001260922,"domain_scores_codex":[0.9996087,0.0000510967,0.00006695712,0.0001096056,0.00008409187,0.00007948867],"domain_scores_gemma":[0.9991714,0.0002875483,0.0002284616,0.00004449926,0.0000589714,0.0002091942],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001022623,0.00009138144,0.6530975,0.0001119573,0.00012247,0.2759402,0.001533473,0.0004208536,0.05260601,0.0006821832,0.000412901,0.01395849],"study_design_scores_gemma":[0.00007131572,0.0004622495,0.4640546,0.00003539615,0.000102044,0.5287216,0.0006463249,0.0004907972,0.003820017,0.0005700784,0.000994954,0.00003060505],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987526,0.0001399651,0.0002448327,0.00002842646,0.000004465677,0.000007750261,0.00004879931,0.000006088426,0.0007670472],"genre_scores_gemma":[0.9995359,0.00006164642,0.0001893305,0.00002267107,0.000009382657,0.00000509362,0.00006499173,0.00000304136,0.0001079826],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002074746,"threshold_uncertainty_score":0.006940722,"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."}}