{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003345298,0.0002446199,0.0006927814,0.0005975555,0.00006955201,0.00001950128,0.00006104002,0.0002241979,0.00006867351],"category_scores_gemma":[0.0003460412,0.0001978762,0.00006510553,0.001158058,0.0005568752,0.00004962631,0.00006997614,0.000183059,0.000001085799],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000207007,"about_ca_system_score_gemma":0.000223442,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003138758,"about_ca_topic_score_gemma":0.002223481,"domain_scores_codex":[0.9979537,0.00006888912,0.0007042591,0.000442862,0.0005346499,0.000295654],"domain_scores_gemma":[0.9987382,0.0004321267,0.0001692893,0.0001932952,0.00008716257,0.0003798995],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005117842,0.003595934,0.8378127,0.003177729,0.001637499,0.07959244,0.005133692,0.001862286,0.003370732,0.003408892,0.0003438866,0.05494639],"study_design_scores_gemma":[0.005411608,0.000512232,0.914751,0.0001880162,0.0009312638,0.01114573,0.0002479143,0.06555359,0.0007156525,0.0002969898,0.00002603911,0.0002199905],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935923,0.003555929,0.00207682,0.000239371,0.00004193993,0.0003285116,0.00005881664,0.00002710325,0.00007919853],"genre_scores_gemma":[0.9945862,0.0001055669,0.004692039,0.000152507,0.0001507851,0.00001483766,0.0001686218,0.00002148084,0.0001079456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0769383,"threshold_uncertainty_score":0.8069159,"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."}}