{"id":"W4407190177","doi":"10.1210/jcemcr/luaf003","title":"A Novel and Rare Pathogenic Gene Variant in 2 Patients With Multiple Endocrine Neoplasia Type 1 (MEN-1) Syndrome","year":2025,"lang":"en","type":"article","venue":"JCEM Case Reports","topic":"Neuroendocrine Tumor Research Advances","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"St Joseph's Health Care; Lawson Health Research Institute; London Health Sciences Centre; Western University","funders":"","keywords":"Multiple endocrine neoplasia; MEN1; Gastrinoma; Medicine; Zollinger-Ellison syndrome; Thymectomy; Hyperparathyroidism; Parathyroidectomy; Endocrine system; Genetic testing; Internal medicine; Gastroenterology; Pathology; Endocrinology; Biology; Gene; Hormone; Parathyroid hormone; Myasthenia gravis; Genetics","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":[0.0003228918,0.00158457,0.0006934375,0.001483899,0.001337853,0.0010127,0.000745788,0.002520989,0.001994768],"category_scores_gemma":[0.002721876,0.0006047534,0.0006730035,0.0007261819,0.0009905437,0.0007775164,0.0009324507,0.001198627,0.0003663216],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005241225,"about_ca_system_score_gemma":0.0004266296,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001172983,"about_ca_topic_score_gemma":0.001195652,"domain_scores_codex":[0.9994684,0.00005903992,0.00006366678,0.0001918447,0.00009073371,0.0001263478],"domain_scores_gemma":[0.9990933,0.0002731466,0.0002145134,0.00005551602,0.00006958616,0.0002940056],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006692419,0.00005210059,0.04492323,0.00001988253,0.000013981,0.950183,0.0003736064,0.0001329324,0.002150233,0.000216043,0.0003582512,0.001509839],"study_design_scores_gemma":[0.00002466985,0.00008129767,0.01756908,0.00001023772,0.00001501335,0.9805746,0.0001311431,0.0002864381,0.0005474298,0.0001617453,0.0005831359,0.00001514684],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954586,0.0005981415,0.0007543636,0.0006920997,0.0001143131,0.00006045418,0.0001999509,0.00006338239,0.002058733],"genre_scores_gemma":[0.9982678,0.0001612563,0.0006003829,0.0002592279,0.0001688787,0.00001893312,0.0001052959,0.00001650597,0.0004017831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002520989,"threshold_uncertainty_score":0.006673157,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009325311157647944,"score_gpt":0.2657261247352098,"score_spread":0.2564008135775619,"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."}}