{"id":"W2038154688","doi":"10.1210/jcem.85.9.6768","title":"LMNA R482Q Mutation in Partial Lipodystrophy Associated with Reduced Plasma Leptin Concentration*","year":2000,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":56,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials","funders":"","keywords":"LMNA; Leptin; Internal medicine; Endocrinology; Lipodystrophy; Adipose tissue; Insulin; Lamin; Chemistry; Biology; Medicine; Obesity; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0001499415,0.001129511,0.0004243641,0.0008351419,0.0008314177,0.0003385439,0.0003662977,0.0006065247,0.001948962],"category_scores_gemma":[0.0007485075,0.0002455715,0.0003986413,0.0006328455,0.0006661507,0.0001257786,0.0003247704,0.0003649542,0.0001950914],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009216009,"about_ca_system_score_gemma":0.0005832221,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.06990448,"about_ca_topic_score_gemma":0.06780545,"domain_scores_codex":[0.9998197,0.00001444447,0.00001668586,0.00005545084,0.00004937363,0.00004439631],"domain_scores_gemma":[0.9997868,0.00004101684,0.00006592688,0.000009984578,0.00003079514,0.00006559975],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002153567,0.0002174407,0.7278076,0.0001497846,0.0003928004,0.1657865,0.001584403,0.0004565107,0.08593618,0.0002801897,0.0007418413,0.01449319],"study_design_scores_gemma":[0.00007753999,0.0004935969,0.90712,0.00002561652,0.0001403692,0.08780181,0.0003120372,0.0007663323,0.002190773,0.00006273711,0.0009801782,0.00002901348],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993235,0.0001175663,0.0001115266,0.00002714737,0.000004223585,0.00001115827,0.00008209037,0.000008462446,0.0003144425],"genre_scores_gemma":[0.9993635,0.00005825077,0.0001559023,0.00002716625,0.000007400735,0.000004241212,0.0001213367,0.000004543674,0.0002576874],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06990448,"threshold_uncertainty_score":0.1389952,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0175400690679349,"score_gpt":0.2992208228698121,"score_spread":0.2816807538018772,"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."}}