{"id":"W1794190868","doi":"10.1111/cge.12623","title":"Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum","year":2015,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Hypertrichosis; Lipodystrophy; Umbilical hernia; Breast enlargement; Genetic counseling; Medicine; Muscle hypertrophy; Internal medicine; Pathology; Endocrinology; Gastroenterology; Biology; Genetics; Hernia; Immunology; Surgery","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":[0.0007147073,0.0001057023,0.0003053917,0.00002444976,0.00001813518,0.000008026926,0.0001253007,0.0002926999,0.000007074982],"category_scores_gemma":[0.0005246131,0.00009689279,0.0001308609,0.00005884734,0.0002662452,0.00000317085,0.0001118941,0.0001064529,0.000002788744],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002464058,"about_ca_system_score_gemma":0.000106197,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007829076,"about_ca_topic_score_gemma":0.000006677252,"domain_scores_codex":[0.9982386,0.0001124033,0.001067022,0.0003200652,0.0001481473,0.0001138261],"domain_scores_gemma":[0.9988515,0.00003684793,0.0003937314,0.0003869298,0.000185962,0.0001450507],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001306528,0.0005135557,0.08030242,0.00003879292,0.0002741315,0.000002172076,0.00005795333,0.0001437583,0.8874851,0.0004563901,0.001980622,0.02743851],"study_design_scores_gemma":[0.01136593,0.005536763,0.7355149,0.00002832165,0.0004180984,0.0000432202,0.0001863393,0.006581052,0.2212433,0.001205526,0.01729525,0.0005812921],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930065,0.0005090651,0.005137018,0.00005218866,0.0009896012,0.0001259268,0.00003161745,0.000005008931,0.0001430818],"genre_scores_gemma":[0.9919622,0.0004984926,0.006614874,0.00007296172,0.000613677,0.000001402429,0.00005201038,0.00001711452,0.000167291],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6662418,"threshold_uncertainty_score":0.3951173,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07283067702125126,"score_gpt":0.365126595676567,"score_spread":0.2922959186553158,"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."}}