{"id":"W2894605235","doi":"10.1002/ajmg.a.40349","title":"Mosaic <i>KRAS</i> mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension","year":2018,"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":14,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Children's Hospital of Eastern Ontario Foundation; Génome Québec; Ontario Genomics Institute; Genome Canada","keywords":"Medicine; Family medicine; Boycott; Library science; Sick child; Pediatrics; Political science; Politics; Law","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002978562,0.0009687767,0.0005220277,0.001827449,0.001378648,0.0008382087,0.0007257693,0.002656073,0.002646369],"category_scores_gemma":[0.001857277,0.0007541056,0.0006039655,0.0008665501,0.001323711,0.0008575807,0.0008372539,0.00133091,0.0004888076],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006543585,"about_ca_system_score_gemma":0.0005823247,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003144275,"about_ca_topic_score_gemma":0.00255826,"domain_scores_codex":[0.9995962,0.00004088242,0.00004875039,0.0001210455,0.00006040994,0.000132721],"domain_scores_gemma":[0.9988002,0.0004212876,0.0001921079,0.00006638173,0.00004896177,0.0004711129],"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":[0.0001200022,0.00003741966,0.01318151,0.00001260503,0.00001207653,0.9815429,0.0001435465,0.00009298592,0.003767474,0.0001839614,0.0001504188,0.000755126],"study_design_scores_gemma":[0.00002471445,0.0001036115,0.02259683,0.00001185152,0.00003670641,0.9747909,0.0001484408,0.0004230524,0.001280232,0.0003023985,0.0002617232,0.00001957432],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942827,0.0003903912,0.0005418719,0.0007726389,0.00006974986,0.00003082289,0.0001046601,0.00004884031,0.003758375],"genre_scores_gemma":[0.9990563,0.00009592209,0.0002627565,0.0001263591,0.00006997368,0.00000335053,0.00002067994,0.00001044734,0.0003542331],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003144275,"threshold_uncertainty_score":0.008852959,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003860226339404599,"score_gpt":0.2157391568609833,"score_spread":0.2118789305215787,"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."}}