{"id":"W2108065215","doi":"10.1016/j.ejmg.2012.07.011","title":"Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1","year":2012,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Wellcome Trust","keywords":"Missense mutation; Nonsense mutation; Genetics; Biology; Nonsense; Mutation; Gene; Compound heterozygosity","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":[0.0001425173,0.0009149235,0.0003799814,0.0006781552,0.0004343346,0.0003287118,0.0004192085,0.001171776,0.00171844],"category_scores_gemma":[0.0008019633,0.0002164677,0.0004240529,0.0003270781,0.0005303326,0.0001580053,0.0003169553,0.000355721,0.0003099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003914189,"about_ca_system_score_gemma":0.0002645963,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001288457,"about_ca_topic_score_gemma":0.00105526,"domain_scores_codex":[0.9998362,0.00002345171,0.00001948854,0.00006318842,0.00003212486,0.00002545725],"domain_scores_gemma":[0.9996787,0.0001053998,0.00007149437,0.00002367833,0.00002645577,0.00009424414],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004201167,0.0001726882,0.0481628,0.0001300998,0.00009338219,0.8021611,0.001185119,0.0004673815,0.1348427,0.0005682971,0.0005916842,0.01120456],"study_design_scores_gemma":[0.0002207005,0.0006823768,0.1344091,0.0000552353,0.0001521604,0.8140417,0.000362005,0.001655665,0.04381939,0.0004608307,0.004075963,0.0000649346],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985297,0.000275722,0.0003751921,0.0001459587,0.00003596383,0.00001401629,0.0001190452,0.00003856012,0.0004659203],"genre_scores_gemma":[0.9987908,0.0001031641,0.000436424,0.0001179316,0.00003894927,0.000006325573,0.0001235212,0.000009633048,0.0003732381],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00171844,"threshold_uncertainty_score":0.005748749,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01954878170879206,"score_gpt":0.262421321682246,"score_spread":0.242872539973454,"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."}}