{"id":"W3152846916","doi":"10.1007/s10689-021-00252-2","title":"Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings","year":2021,"lang":"en","type":"article","venue":"Familial Cancer","topic":"Cancer, Hypoxia, and Metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; McGill University Health Centre","funders":"","keywords":"Von Hippel–Lindau disease; Pheochromocytoma; Missense mutation; Medicine; Germline mutation; Disease; Germline; Human genetics; Family history; Internal medicine; Pathology; Oncology; Mutation; Genetics; Biology; Gene","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":[0.0005329748,0.001414957,0.0007725997,0.001889825,0.001931661,0.0007093313,0.0009826968,0.002428087,0.003819318],"category_scores_gemma":[0.003798733,0.0007870054,0.0005869046,0.001056827,0.001483071,0.001081253,0.001061869,0.001462711,0.0005288747],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009127163,"about_ca_system_score_gemma":0.0007512688,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005575527,"about_ca_topic_score_gemma":0.003901509,"domain_scores_codex":[0.9992765,0.00008947328,0.00006817846,0.0001886686,0.0001941231,0.0001831326],"domain_scores_gemma":[0.9982461,0.0005341953,0.0002871176,0.00007762241,0.0001104075,0.0007445845],"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":[0.0001313255,0.00008274907,0.04486424,0.00002270728,0.00001649146,0.9505379,0.000662988,0.0001082934,0.001644412,0.0003304103,0.0002563726,0.001342192],"study_design_scores_gemma":[0.00003021371,0.0002981756,0.07624515,0.00002618712,0.00004335259,0.9198477,0.0007157107,0.0004292735,0.00103427,0.0006504513,0.0006391934,0.00004032163],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943396,0.000543952,0.0005780871,0.0007924935,0.00008225412,0.00004806533,0.0002309282,0.00004135515,0.003343241],"genre_scores_gemma":[0.9983857,0.0002576947,0.000280913,0.0001573096,0.00009231434,0.0000103476,0.00005254573,0.00001363103,0.0007496229],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005575527,"threshold_uncertainty_score":0.01277691,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01237446227681651,"score_gpt":0.2801523990746464,"score_spread":0.2677779367978299,"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."}}