{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001703064,0.001168493,0.0003624385,0.001018068,0.0007380884,0.0002769927,0.0002942502,0.0006810689,0.001854644],"category_scores_gemma":[0.0007567349,0.0003545254,0.0003779132,0.00054096,0.0005162624,0.0002685238,0.0005210285,0.0004409603,0.0003670568],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002286026,"about_ca_system_score_gemma":0.0001976975,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007988277,"about_ca_topic_score_gemma":0.0009768375,"domain_scores_codex":[0.9998049,0.00003007362,0.00002863784,0.00006848286,0.00002797855,0.0000399227],"domain_scores_gemma":[0.9997292,0.00007658407,0.00007681447,0.00001691042,0.00001621114,0.00008423108],"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":[0.0003442248,0.0001061203,0.1435454,0.00009637606,0.0001195112,0.8085351,0.0004443263,0.0002662801,0.03836574,0.0003227077,0.000561075,0.007293162],"study_design_scores_gemma":[0.00007089077,0.0002865778,0.116174,0.00001837419,0.00006186942,0.8789781,0.000121995,0.0003913693,0.002929154,0.0001766622,0.0007710209,0.00001999871],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976012,0.0003256429,0.0006363489,0.000089871,0.00001538171,0.00002501589,0.00009481321,0.00003140465,0.001180438],"genre_scores_gemma":[0.9989547,0.00008508488,0.0003662114,0.00007976879,0.00003564097,0.00001267045,0.00007412889,0.000005583854,0.0003862088],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001854644,"threshold_uncertainty_score":0.006204426,"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."}}