{"id":"W3165701661","doi":"10.1002/ajmg.a.62356","title":"Novel findings and expansion of phenotype in a mosaic <scp>RASopathy</scp> caused by somatic <scp><i>KRAS</i></scp> variants","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; University of British Columbia; Alberta Children's Hospital; B.C. Women's Hospital & Health Centre; BC Children's Hospital; Children's & Women's Health Centre of British Columbia","funders":"","keywords":"KRAS; Phenotype; Somatic cell; HRAS; Pathology; Biology; Medicine; Cancer research; Mutation; Genetics","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":[0.0005639785,0.0002510566,0.0005637175,0.00009363607,0.00004657296,0.00002566362,0.0003758714,0.0002065678,0.00002389493],"category_scores_gemma":[0.001936747,0.0002259228,0.0001428162,0.0003380392,0.0004561904,0.000005891019,0.0002185887,0.0002851004,0.000002584481],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001622465,"about_ca_system_score_gemma":0.0007907237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002216099,"about_ca_topic_score_gemma":0.00001408193,"domain_scores_codex":[0.9973661,0.0001828206,0.0008000942,0.0003590249,0.0008668497,0.0004251578],"domain_scores_gemma":[0.998188,0.0002199872,0.0004620991,0.0003185173,0.0002279911,0.0005833995],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001909625,0.0007340875,0.02887164,0.0001144271,0.0002688201,0.0002024695,0.001186203,0.0001137746,0.9377191,0.000009714694,0.01820121,0.01255942],"study_design_scores_gemma":[0.01332091,0.005871043,0.2342509,0.001635943,0.0007778713,0.001869721,0.01593519,0.001680996,0.6510872,0.0004229069,0.07259814,0.0005491466],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9863125,0.009775728,0.00325269,0.0001895122,0.0002243513,0.00009908602,0.00005065581,0.000003530775,0.00009194502],"genre_scores_gemma":[0.9906447,0.005999575,0.00231308,0.0006257616,0.0001937924,0.000005614995,0.00004938123,0.00003813733,0.0001299515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2866319,"threshold_uncertainty_score":0.9212865,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007246962687234294,"score_gpt":0.2426650951939651,"score_spread":0.2354181325067309,"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."}}