{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000974008,0.0001608125,0.000185026,0.00004582617,0.00006353509,0.00004323349,0.00008180482,0.0001110528,0.0000482751],"category_scores_gemma":[0.00007129192,0.000165269,0.0000709927,0.0001649894,0.00009622303,0.000008036933,0.0001080446,0.0001084889,0.000002481433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002957127,"about_ca_system_score_gemma":0.0004915366,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001364122,"about_ca_topic_score_gemma":0.0006821233,"domain_scores_codex":[0.998874,0.00005041918,0.0001772462,0.0004606085,0.0001428264,0.0002948659],"domain_scores_gemma":[0.9994581,0.000006453339,0.0000525227,0.0002348699,0.00008758151,0.0001604685],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006663412,0.0001791419,0.02287375,0.0002048387,0.00008815282,0.00008402384,0.0003769685,0.0001011038,0.8443145,0.0001608537,0.005726049,0.1252244],"study_design_scores_gemma":[0.004043833,0.0001204994,0.1060106,0.0002304819,0.0001304563,0.0000255484,0.0002318513,0.0004134225,0.2216011,0.000237533,0.666209,0.0007456566],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9279795,0.06982285,0.00005555496,0.0002992988,0.0011829,0.0001532949,0.00006281497,0.0000134878,0.0004302953],"genre_scores_gemma":[0.9867306,0.008083205,0.0002246389,0.0008447127,0.002966474,0.00008062973,0.0000950602,0.00003080298,0.0009439011],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6604829,"threshold_uncertainty_score":0.6739476,"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."}}