{"id":"W2170005108","doi":"10.1093/hmg/ddt639","title":"Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Adrenal and Paraganglionic Tumors","field":"Medicine","cited_by":391,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal","funders":"","keywords":"Biology; Germline; Germline mutation; Paraganglioma; Genetics; Mutation; Cancer research; Proto-Oncogene Proteins c-ret; Genetic predisposition; Gene; Pathology; Medicine","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":[0.0001369271,0.0002899178,0.0002109671,0.0006133603,0.0002180093,0.0002246949,0.00009111056,0.0002669338,0.002074433],"category_scores_gemma":[0.001041784,0.0001400102,0.0002126096,0.0002866256,0.0002187112,0.0001409108,0.0002247553,0.0001903418,0.0001962365],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009724357,"about_ca_system_score_gemma":0.00007886239,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007577712,"about_ca_topic_score_gemma":0.0006015369,"domain_scores_codex":[0.9998615,0.00002346212,0.00001256328,0.00004099558,0.00002884438,0.00003266926],"domain_scores_gemma":[0.9996277,0.0001260219,0.0001063005,0.00002146783,0.00002042127,0.00009808279],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004351363,0.00004386468,0.9303813,0.00002916914,0.0000745681,0.007963707,0.0002172892,0.0001987527,0.05314423,0.0001077758,0.0001157621,0.007288354],"study_design_scores_gemma":[0.00001755313,0.000145722,0.9750032,0.000005599491,0.00005441946,0.02000719,0.000107144,0.0002966585,0.003921749,0.0001102084,0.0003229948,0.000007425936],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992626,0.0001331933,0.000143596,0.00001299592,0.000002744008,0.000003507696,0.00003417249,0.000007540164,0.0003996531],"genre_scores_gemma":[0.9997593,0.00004967087,0.00007471871,0.000007444788,0.000008131979,0.000001151287,0.00003836145,0.000001702903,0.00005953789],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002074433,"threshold_uncertainty_score":0.00693965,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01273805596739443,"score_gpt":0.2767713649267866,"score_spread":0.2640333089593922,"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."}}