{"id":"W4365511217","doi":"10.1093/noajnl/vdad029","title":"Germline Platelet-derived growth factor receptor beta p.R987W pathogenic variant in 2 children with brain tumors","year":2023,"lang":"en","type":"article","venue":"Neuro-Oncology Advances","topic":"Medical Imaging and Pathology Studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill University Health Centre; Université Laval; McGill University","funders":"Canadian Institutes of Health Research; Generalitat de Catalunya","keywords":"PDGFRB; Germline; PDGFB; Growth factor receptor; Proband; Biology; Cancer research; Medicine; Platelet-derived growth factor receptor; Receptor; Growth factor; Gene; Internal medicine; Genetics; Mutation","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":[0.0002735646,0.001483962,0.0007525238,0.002000702,0.001464591,0.0008058283,0.000724573,0.002740482,0.001715405],"category_scores_gemma":[0.00219661,0.0007574113,0.0006877433,0.0009736523,0.001307292,0.0007912604,0.001028724,0.002053925,0.0003154537],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009369869,"about_ca_system_score_gemma":0.000848362,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004188635,"about_ca_topic_score_gemma":0.003871172,"domain_scores_codex":[0.9993293,0.00005261104,0.00006959045,0.0002546127,0.0001376251,0.0001562778],"domain_scores_gemma":[0.9990938,0.0002378408,0.0002327206,0.00003021823,0.00006305502,0.0003424663],"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":[0.0001040201,0.00007951207,0.05869486,0.00002661741,0.00001999882,0.934064,0.000707364,0.0001660103,0.00345718,0.0002969439,0.0003315282,0.002052002],"study_design_scores_gemma":[0.00002226781,0.0001206075,0.05172256,0.00002134692,0.00003060148,0.9460496,0.0002826777,0.0002658836,0.0008294423,0.0001518421,0.0004828039,0.00002031762],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964201,0.0004547242,0.0006303486,0.0007055337,0.00007745251,0.00003677698,0.0003182295,0.0000452067,0.001311644],"genre_scores_gemma":[0.9982412,0.0002902279,0.0006113072,0.0001939867,0.00008443875,0.00001614532,0.0001516366,0.00001915919,0.0003919248],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004188635,"threshold_uncertainty_score":0.008328497,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01769534339803041,"score_gpt":0.2947908661958235,"score_spread":0.2770955227977931,"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."}}