{"id":"W2168394145","doi":"10.1186/1471-2350-7-1","title":"Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma","year":2006,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Adrenal and Paraganglionic Tumors","field":"Medicine","cited_by":167,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital","funders":"Regione Piemonte; Associazione Italiana per la Ricerca sul Cancro; KWF Kankerbestrijding; Compagnia di San Paolo","keywords":"SDHB; SDHD; Paraganglioma; SDHA; Germline mutation; Pheochromocytoma; Biology; Missense mutation; Genetics; Germline; Exon; Molecular biology; Mutation; Succinate dehydrogenase; Gene; Endocrinology; Medicine; Pathology; Mitochondrion","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":[0.0001221808,0.0005163988,0.0002262449,0.001013487,0.0004308665,0.0002339374,0.0002504006,0.0004928473,0.001181587],"category_scores_gemma":[0.0006204277,0.0001895093,0.000232566,0.0003670324,0.0003998295,0.0001145109,0.0003120343,0.0002057993,0.0001522906],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003039064,"about_ca_system_score_gemma":0.0002656481,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002316362,"about_ca_topic_score_gemma":0.002433721,"domain_scores_codex":[0.9998164,0.00001484829,0.00001876486,0.00005416614,0.00005638896,0.00003953948],"domain_scores_gemma":[0.9996897,0.00009470089,0.00006224712,0.00001379098,0.00003889757,0.0001007335],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004874213,0.0001774605,0.621201,0.000125853,0.0002237329,0.1917927,0.001957684,0.0005200849,0.1709787,0.0001824993,0.0003260566,0.01202683],"study_design_scores_gemma":[0.0001141598,0.0006070481,0.6910579,0.00002039897,0.000195732,0.2791063,0.0006556104,0.001342321,0.02524642,0.0002008847,0.001415925,0.0000373813],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996089,0.00008214813,0.00012213,0.00001086817,0.000002447336,0.000004812061,0.00003121919,0.000004899274,0.0001325482],"genre_scores_gemma":[0.9997161,0.00002529626,0.000123438,0.000007971946,0.000003594403,0.000002594441,0.00004509452,0.000001531742,0.00007438254],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002316362,"threshold_uncertainty_score":0.00460577,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02309886869761124,"score_gpt":0.300975062427017,"score_spread":0.2778761937294058,"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."}}