{"id":"W2912876039","doi":"10.1093/brain/awy346","title":"PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights","year":2018,"lang":"en","type":"article","venue":"Brain","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; McGill University; Children's Hospital of Eastern Ontario; University of Calgary; BC Children's Hospital; McGill University and Génome Québec Innovation Centre; University of British Columbia; University of Ottawa","funders":"Ministry of Higher Education; Michael Smith Health Research BC; Stichting Metakids; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; Children's Hospital of Eastern Ontario Foundation; Genome Canada; National Ataxia Foundation; Ontario Genomics; Genome British Columbia; Rare Disease Foundation; Children's Hospital Foundation","keywords":"Biology; Phenotype; Epilepsy; Disease; Zebrafish; Encephalopathy; Status epilepticus; Genetics; Bioinformatics; Internal medicine; Medicine; Neuroscience; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001873444,0.0001465145,0.0001506809,0.00003287636,0.0001022303,0.00003053949,0.0001897963,0.000168215,0.00006077932],"category_scores_gemma":[0.0003413643,0.0001315904,0.0000569232,0.00008544642,0.0003846801,0.000001556861,0.0001113595,0.00005606775,0.00006418418],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":9.237889e-7,"about_ca_system_score_gemma":0.00006553582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007997681,"about_ca_topic_score_gemma":0.00001933493,"domain_scores_codex":[0.9988469,0.00007617176,0.00025922,0.0004765297,0.0001069177,0.0002342764],"domain_scores_gemma":[0.9993165,0.00002629956,0.0000607767,0.0003908392,0.0000639073,0.0001417165],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007152973,0.0001505578,0.00155796,0.00002334245,0.00003876248,0.00000335435,0.0001128216,8.169285e-7,0.887836,0.001908338,0.08385935,0.02443711],"study_design_scores_gemma":[0.00151749,0.0009653219,0.02253377,0.00001520635,0.00005590371,0.00002738388,0.0001481439,0.0001482485,0.1903578,0.005771603,0.7778651,0.0005941389],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859573,0.004715308,0.005341456,0.0002552663,0.0003001322,0.0001510795,0.000008981278,0.00001545349,0.003255025],"genre_scores_gemma":[0.9913334,0.0007271359,0.004406057,0.002161394,0.0005359792,0.00001079902,0.00002871836,0.00002165403,0.0007749045],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6974783,"threshold_uncertainty_score":0.5366102,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01363615090122671,"score_gpt":0.2881631684588777,"score_spread":0.274527017557651,"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."}}