{"id":"W2143644834","doi":"10.1016/j.ymgmr.2015.10.010","title":"LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy","year":2015,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Lipid metabolism and biosynthesis","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"","keywords":"Rhabdomyolysis; Frameshift mutation; Creatine kinase; Internal medicine; Endocrinology; Medicine; Exon; Mutation; Biology; Genetics; Gene","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":[0.0003476215,0.000288678,0.0004084068,0.0001147057,0.00007076369,0.00004998583,0.0001051156,0.00013,0.000006702615],"category_scores_gemma":[0.0001024372,0.0002337106,0.00009420714,0.0001714339,0.0001001295,0.000008438517,0.0001914977,0.00006417186,8.378501e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000822995,"about_ca_system_score_gemma":0.0001386009,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004052861,"about_ca_topic_score_gemma":0.00001265272,"domain_scores_codex":[0.9981749,0.00007104132,0.0004648528,0.0006067907,0.0003838532,0.0002985661],"domain_scores_gemma":[0.9985732,0.000005131854,0.0002588159,0.0005018655,0.0003102138,0.0003507173],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001590766,0.0001664423,0.006782605,0.00009227726,0.0001775519,0.0001456144,0.0003369396,0.000188245,0.9637456,0.00008396235,0.0000863012,0.0280354],"study_design_scores_gemma":[0.0008455829,0.0004715609,0.05979308,0.00005224198,0.0004229237,0.00112044,0.0001596654,0.0000419504,0.9097179,0.00007033657,0.02679107,0.0005132118],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9822191,0.01511699,0.001798528,0.00008568342,0.0001640235,0.0003473274,0.00003208093,0.00000898384,0.0002273038],"genre_scores_gemma":[0.9911805,0.0003240929,0.008029473,0.0001249764,0.0001321123,0.00003186981,0.00004328382,0.0000335512,0.000100078],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05402764,"threshold_uncertainty_score":0.953044,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01128420536887183,"score_gpt":0.2233437554608146,"score_spread":0.2120595500919428,"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."}}