{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000256117,0.0007967424,0.0004807154,0.001363227,0.0002325382,0.0004143645,0.0003972127,0.0005989981,0.00166776],"category_scores_gemma":[0.001330887,0.0002048557,0.0002899714,0.0008592869,0.0006752043,0.0002214128,0.0005822722,0.000323578,0.0002734462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002068309,"about_ca_system_score_gemma":0.0001760549,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005804413,"about_ca_topic_score_gemma":0.0004843615,"domain_scores_codex":[0.9996446,0.00005371459,0.00004825001,0.0001348864,0.00006753123,0.00005096057],"domain_scores_gemma":[0.9994524,0.0001806343,0.0001402585,0.00004660223,0.00005702054,0.0001230072],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000907245,0.0001842596,0.5622069,0.0002443443,0.0001751896,0.2474739,0.001176542,0.000987767,0.1363806,0.0009375954,0.001216778,0.04810894],"study_design_scores_gemma":[0.0001112793,0.0002775834,0.5243336,0.00004677915,0.0001086985,0.4652456,0.0003508622,0.001314878,0.005147447,0.0005320638,0.002485557,0.00004570144],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972827,0.000714854,0.0007246278,0.00009342835,0.000008804114,0.00002067712,0.0002073269,0.00003586354,0.0009116983],"genre_scores_gemma":[0.9984847,0.0002647511,0.0008399863,0.00004583976,0.00002355101,0.000009958574,0.0002080187,0.000009437926,0.0001137668],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00166776,"threshold_uncertainty_score":0.005579233,"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."}}