{"id":"W2068081016","doi":"10.1016/j.ajhg.2007.12.019","title":"Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis","year":2008,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":259,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Progressive myoclonus epilepsy; Myoclonus; Focal segmental glomerulosclerosis; Epilepsy; Glomerulosclerosis; Candidate gene; Bioinformatics; Biology; Medicine; Genetics; Neuroscience; Internal medicine; Gene; Kidney; Glomerulonephritis; Proteinuria","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":[0.0005443847,0.0009566043,0.0004957698,0.00123683,0.001144177,0.0007865053,0.0004213339,0.001319749,0.002070301],"category_scores_gemma":[0.00143831,0.0003124832,0.0006088548,0.0005759529,0.000676173,0.0002177503,0.0003663074,0.0007499898,0.0004560681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003815723,"about_ca_system_score_gemma":0.0001838077,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00300536,"about_ca_topic_score_gemma":0.002727119,"domain_scores_codex":[0.9993502,0.00009558336,0.0000684764,0.0002209291,0.0001502105,0.0001144731],"domain_scores_gemma":[0.9994121,0.0003347676,0.00004664028,0.00004445526,0.00005830863,0.0001038375],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002505379,0.0007869081,0.4506966,0.0001036683,0.0002806332,0.1530363,0.004061731,0.0004512827,0.371458,0.0006754033,0.001311375,0.01463271],"study_design_scores_gemma":[0.0003020507,0.001034042,0.7618976,0.00002403208,0.000375003,0.151636,0.001794156,0.002073504,0.07650715,0.0006713316,0.003616648,0.00006847421],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977551,0.00008424484,0.0008062704,0.00016659,0.00001852063,0.00002142185,0.0001740788,0.00002941588,0.0009444311],"genre_scores_gemma":[0.9984568,0.00003412921,0.000599456,0.0001788417,0.00002157083,0.00001373654,0.0001591435,0.00001375833,0.0005226497],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00300536,"threshold_uncertainty_score":0.006925881,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02058698163170257,"score_gpt":0.2476372941358888,"score_spread":0.2270503125041863,"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."}}