{"id":"W4403148933","doi":"10.1210/jendso/bvae163.134","title":"7694 Characterizing NF1 Germline Pathogenic Variants In A Cohort Of Patients With Pheochromocytomas And Neurofibromatosis Type 1","year":2024,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Adrenal and Paraganglionic Tumors","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal","funders":"","keywords":"Neurofibromatosis; Germline; Medicine; Neurofibromatosis type I; Neurofibromin 1; Cohort; Genetics; Internal medicine; Oncology; Biology; Pathology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001878717,0.0001174766,0.0003328777,0.00004875242,0.00003097168,0.00001295563,0.00008667809,0.00002640714,0.00003661969],"category_scores_gemma":[0.00004203525,0.00006374872,0.0001866229,0.0003607013,0.00007735531,0.0001073783,0.00006290136,0.0003299689,0.000001258552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004202742,"about_ca_system_score_gemma":0.0001289963,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000643378,"about_ca_topic_score_gemma":8.872579e-7,"domain_scores_codex":[0.9990034,0.00004346558,0.000378298,0.000115156,0.0003035607,0.000156163],"domain_scores_gemma":[0.9994194,0.00005935675,0.0002011236,0.0001315153,0.0001172347,0.00007137077],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001165282,0.0005272675,0.9615381,0.0009264381,0.000956017,0.002901028,0.001877572,0.00001842324,0.02531925,0.00009522687,0.002810128,0.001865261],"study_design_scores_gemma":[0.001510077,0.0004389343,0.990004,0.0007359934,0.0002462566,0.004039725,0.00005349694,0.0001579336,0.00232317,0.00004948479,0.0003673193,0.00007360343],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976582,0.0006909312,0.00001100352,0.001146565,0.0002533849,0.0001567324,0.00001346045,0.000008509646,0.00006119328],"genre_scores_gemma":[0.9990221,0.0001171621,0.0003615275,0.0001983664,0.000134912,0.000001084774,0.000003457676,0.00001852693,0.0001428121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0284659,"threshold_uncertainty_score":0.2599597,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006844167207723993,"score_gpt":0.2362389156859228,"score_spread":0.2293947484781989,"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."}}