{"id":"W3046204727","doi":"10.1210/jendso/bvaa104","title":"Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant","year":2020,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"National Center for Advancing Translational Sciences; National Center for Research Resources; National Cancer Institute; National Institutes of Health; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Southwestern Medical Foundation","keywords":"LMNA; Lipodystrophy; Medicine; Cardiomyopathy; Nephropathy; Internal medicine; Progeria; Endocrinology; Dermatology; Cardiology; Genetics; Heart failure; Biology; Immunology; Human immunodeficiency virus (HIV); Diabetes mellitus; Lamin","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":[0.0001056602,0.0001328443,0.0002138013,0.000009198536,0.0001003548,0.00003990987,0.0001892376,0.00004433959,0.000004525509],"category_scores_gemma":[0.00002646524,0.00007997745,0.0001793191,0.00009908462,0.00004233406,0.00001137864,0.000118754,0.0001820503,0.000001230239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001567632,"about_ca_system_score_gemma":0.00005398853,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007821914,"about_ca_topic_score_gemma":0.000002300959,"domain_scores_codex":[0.9992126,0.00006746117,0.0001986066,0.0001783089,0.0001848036,0.0001582266],"domain_scores_gemma":[0.9993584,0.000004262758,0.0001543377,0.0001962449,0.000108763,0.0001780029],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009535609,0.00009960277,0.005801847,0.0001780294,0.0008822214,0.0008583756,0.002341639,0.0008483371,0.9653255,0.00006403447,0.01564354,0.007003313],"study_design_scores_gemma":[0.01218859,0.03084821,0.1239826,0.0003998526,0.001317535,0.1700914,0.007412634,0.001681326,0.1653801,0.0001298274,0.4846308,0.001937118],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996151,0.0002890828,0.001554021,0.001555588,0.0002298917,0.0001676495,0.00001014409,0.000006611596,0.00003600787],"genre_scores_gemma":[0.9934227,0.00002907977,0.00466831,0.001065852,0.0007390676,0.000002327296,0.000002176093,0.00002345509,0.00004696723],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7999454,"threshold_uncertainty_score":0.3261386,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005473569865934301,"score_gpt":0.1981541968742992,"score_spread":0.1926806270083649,"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."}}