{"id":"W4416234044","doi":"10.3389/fendo.2025.1662871","title":"Case Report: Novel likely pathogenic MEN1 mosaic mutation in the family with MEN-1 syndrome","year":2025,"lang":"en","type":"article","venue":"Frontiers in Endocrinology","topic":"Neuroendocrine Tumor Research Advances","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Osteoporosis Canada","funders":"Russian Science Foundation","keywords":"Sanger sequencing; MEN1; Germline; Multiple endocrine neoplasia; Germline mutation; Mutation; Exome sequencing; Allele; Genetic testing","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":[0.0004015848,0.002156488,0.001723218,0.002101512,0.002325303,0.001144937,0.001304645,0.004459751,0.002696839],"category_scores_gemma":[0.002063048,0.0009698606,0.001383469,0.0009810199,0.001627322,0.001200627,0.001600642,0.00270225,0.0006189776],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001392797,"about_ca_system_score_gemma":0.0007600377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00357029,"about_ca_topic_score_gemma":0.003552212,"domain_scores_codex":[0.9992982,0.00005878639,0.00005283567,0.0003369626,0.00008890602,0.000164301],"domain_scores_gemma":[0.9990202,0.0002507064,0.0001628815,0.00006876222,0.00006034542,0.0004370512],"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":[0.00003001329,0.00003723083,0.004094978,0.00001826768,0.00001214857,0.9929748,0.0002897836,0.00009392386,0.001208609,0.0001881259,0.0002679965,0.0007841083],"study_design_scores_gemma":[0.000008493585,0.00004946231,0.003286412,0.000008161122,0.00001160604,0.9954352,0.00006592801,0.0002063809,0.000387295,0.0001551723,0.0003740488,0.00001185739],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9797926,0.003060176,0.004635633,0.004139778,0.000387696,0.0001946713,0.0007354911,0.0003004006,0.00675346],"genre_scores_gemma":[0.995122,0.000565893,0.001617957,0.0006437314,0.0003827946,0.00003018744,0.0001312893,0.00003385179,0.001472159],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004459751,"threshold_uncertainty_score":0.01010549,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01704387443438175,"score_gpt":0.2963610614552253,"score_spread":0.2793171870208435,"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."}}