{"id":"W2044992049","doi":"10.1007/s00439-009-0629-6","title":"Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype","year":2009,"lang":"en","type":"article","venue":"Human Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Canada Research Chairs; Hospital for Sick Children","funders":"","keywords":"Biology; Pyruvate dehydrogenase complex; Mutation; Pyruvate dehydrogenase phosphatase; Phosphatase; Nonsense mutation; Phenotype; Lactate dehydrogenase; Gene; Molecular biology; Genetics; Enzyme; Biochemistry; Phosphorylation","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001674216,0.0002626607,0.0001902645,0.00006077397,0.0001753818,0.00006010926,0.0003020659,0.0001467793,0.000126577],"category_scores_gemma":[0.00004673132,0.000269541,0.00009692625,0.0001329024,0.00009907933,0.000005210531,0.00006801476,0.00009057824,0.00006642614],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003576265,"about_ca_system_score_gemma":0.00007305336,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001383752,"about_ca_topic_score_gemma":0.00003298253,"domain_scores_codex":[0.9984557,0.00005913583,0.0003220791,0.000544407,0.0002264082,0.0003922739],"domain_scores_gemma":[0.9989924,0.000004271595,0.0001246704,0.0006240976,0.0001091601,0.0001453432],"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":[0.0001153702,0.0003550246,0.001397117,0.00003501152,0.00006390717,0.00002745055,0.0004022921,0.0009527223,0.9536628,0.0007553539,0.01120133,0.03103164],"study_design_scores_gemma":[0.001208506,0.0005920103,0.0167057,0.00001179145,0.00007940763,0.00001548389,0.00008455595,0.0001215253,0.8918788,0.001654787,0.08710162,0.0005458436],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9869569,0.009710596,0.0003925483,0.0001056071,0.0001841229,0.0003336344,0.00004681862,0.00003220712,0.00223759],"genre_scores_gemma":[0.9954643,0.0003874717,0.001569664,0.0006733468,0.0004112081,0.00001798997,0.000722676,0.00003304194,0.0007202515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07590029,"threshold_uncertainty_score":0.9999757,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009566943766380594,"score_gpt":0.2610332882420662,"score_spread":0.2514663444756856,"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."}}