{"id":"W2788648365","doi":"10.1172/jci98589","title":"Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy","year":2018,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Vascular Malformations Diagnosis and Treatment","field":"Medicine","cited_by":286,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"National Human Genome Research Institute; National Institutes of Health; Brain Tumour Charity; National Institute for Health and Care Research; Melanoma Research Alliance; Wellcome Trust; Medical Research Council; Wellcome","keywords":"Zebrafish; Neuroblastoma RAS viral oncogene homolog; KRAS; Medicine; Cancer research; Trametinib; Pathogenesis; Targeted therapy; Biology; Cancer; Bioinformatics; Mutation; Genetics; MAPK/ERK pathway; Pathology; Gene; Signal transduction","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":[0.0001592084,0.0002658189,0.0001766503,0.0003888551,0.0001795245,0.0001472334,0.0001347831,0.0003243625,0.001100607],"category_scores_gemma":[0.0008283854,0.0001043466,0.0001963455,0.0002135045,0.0003609744,0.00009061815,0.0002123906,0.0001800103,0.0001639355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002127492,"about_ca_system_score_gemma":0.0001830626,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004934384,"about_ca_topic_score_gemma":0.0007166376,"domain_scores_codex":[0.9998318,0.00001998839,0.00001630043,0.00004541017,0.00005098319,0.00003542489],"domain_scores_gemma":[0.9995828,0.000117622,0.0001786955,0.00001980866,0.00003285286,0.00006814305],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001030023,0.0001232232,0.4899915,0.0001592279,0.0001440833,0.1311885,0.0004786953,0.0009714529,0.3463408,0.0008772412,0.001084019,0.02761127],"study_design_scores_gemma":[0.00006462079,0.0007629676,0.4539806,0.00002488547,0.0001187397,0.4850604,0.0002934105,0.002019784,0.05350906,0.0005853626,0.00355812,0.00002194102],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984281,0.0002216656,0.0005286078,0.00003030921,0.000004342697,0.00001182577,0.00006918428,0.00003250212,0.00067358],"genre_scores_gemma":[0.9992757,0.00006773841,0.0004740659,0.00001282408,0.000005210519,0.000003345071,0.00005134611,0.000007253869,0.0001024975],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001100607,"threshold_uncertainty_score":0.003681898,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09992566510296441,"score_gpt":0.3928731058384804,"score_spread":0.292947440735516,"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."}}