{"id":"W1992743440","doi":"10.1385/endo:29:3:485","title":"Expression and Functional Analysis of Menin in a Multiple Endocrine Neoplasia Type 1 (MEN1) Patient with Somatic Loss of Heterozygosity in Chromosome 11q13 and Unidentified Germline Mutation of the MEN1 Gene","year":2006,"lang":"en","type":"article","venue":"Endocrine","topic":"Neuroendocrine Tumor Research Advances","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Royal Victoria Hospital; Royal Victoria Regional Health Centre","funders":"Canadian Institutes of Health Research; Uehara Memorial Foundation","keywords":"MEN1; Multiple endocrine neoplasia; Loss of heterozygosity; Germline mutation; Cancer research; Proband; Germline; Biology; Endocrinology; Tumor suppressor gene; Primary hyperparathyroidism; Internal medicine; Mutation; Genetics; Cancer; Medicine; Gene; Allele; Carcinogenesis","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000153046,0.0005909433,0.0003369915,0.0007999022,0.0006959096,0.0004833362,0.0003385764,0.0008344126,0.001442448],"category_scores_gemma":[0.0006310007,0.0002912281,0.0003378647,0.000370605,0.0005225034,0.0003050795,0.0002653492,0.0004499032,0.0002704591],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00040719,"about_ca_system_score_gemma":0.000171662,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001524377,"about_ca_topic_score_gemma":0.0009413016,"domain_scores_codex":[0.9998811,0.00001142021,0.00001233621,0.00003809843,0.00001977497,0.00003724315],"domain_scores_gemma":[0.999782,0.00009993252,0.00002758737,0.00000981602,0.0000154975,0.00006520562],"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":[0.001181406,0.0001810665,0.08223383,0.00008276606,0.00006321117,0.5555412,0.00145112,0.0007160364,0.3513764,0.0005971018,0.0003554142,0.006220472],"study_design_scores_gemma":[0.00008726517,0.0007715801,0.2648824,0.00001568561,0.0002325143,0.6430894,0.0008474743,0.00300027,0.08427241,0.0006417386,0.002114009,0.00004521489],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986424,0.000186217,0.0002513883,0.0001011602,0.000007645395,0.000005486606,0.00008249762,0.00001098656,0.0007122199],"genre_scores_gemma":[0.999162,0.00007506434,0.0001911275,0.00002700835,0.000008647095,0.000002861629,0.00007458282,0.00000632796,0.0004523239],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001524377,"threshold_uncertainty_score":0.004825532,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01187017710849088,"score_gpt":0.2548642089253599,"score_spread":0.242994031816869,"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."}}