{"id":"W2109917395","doi":"10.1136/jmg.39.3.178","title":"Prevalence of <i>SDHB, SDHC</i>, and <i>SDHD</i> germline mutations in clinic patients with head and neck paragangliomas","year":2002,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Adrenal and Paraganglionic Tumors","field":"Medicine","cited_by":341,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Health Services","funders":"National Institute of Dental and Craniofacial Research; University of Pittsburgh","keywords":"SDHD; SDHB; Paraganglioma; Genetics; Germline mutation; Mutation; Germline; Biology; Medicine; Gene; Pathology","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":[0.0003677392,0.0001217882,0.0003815185,0.0001449603,0.00002405895,0.000006234266,0.00009994035,0.0001155554,0.000286215],"category_scores_gemma":[0.0003285653,0.00008213244,0.00004602593,0.0002299373,0.000270111,0.00004633882,0.00003861608,0.0003817787,0.00000271649],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001299524,"about_ca_system_score_gemma":0.00009351278,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003574443,"about_ca_topic_score_gemma":0.000007408889,"domain_scores_codex":[0.9980363,0.00005409434,0.0007241386,0.0001322533,0.0008790488,0.0001741516],"domain_scores_gemma":[0.9988006,0.0001795118,0.0003302759,0.0001141693,0.0001863927,0.0003890001],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005043499,0.0013146,0.9727488,0.0006693181,0.0000956232,0.003980896,0.001167421,0.00002944213,0.00002609264,0.00001407556,0.001040013,0.0184094],"study_design_scores_gemma":[0.009109718,0.002826807,0.9794869,0.001368304,0.000218957,0.005127279,0.00007163575,0.0008393897,0.0002324693,0.00009626342,0.0004935999,0.0001286692],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917529,0.006472467,0.00006908579,0.001348528,0.00007473522,0.0001377089,0.000007692892,0.00000347222,0.0001333905],"genre_scores_gemma":[0.9962119,0.00161264,0.00149667,0.0003729774,0.0001187453,0.000001187018,0.000001810284,0.00001235968,0.0001716796],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01828073,"threshold_uncertainty_score":0.3349264,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02016764814496622,"score_gpt":0.2874909969308829,"score_spread":0.2673233487859167,"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."}}