{"id":"W2035783146","doi":"10.1016/j.nmd.2010.07.016","title":"P1.01 POMGnT1 enhancement for muscle–eye–brain disease","year":2010,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Medicine; Enzyme replacement therapy; Missense mutation; Disease; Phenotype; Internal medicine; Genetics; Biology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004848065,0.0007315034,0.0006321119,0.000291504,0.0004399146,0.0005102485,0.0005765964,0.001317043,0.01600552],"category_scores_gemma":[0.0009032303,0.0002305925,0.000486811,0.0001329852,0.0009464307,0.0004238084,0.000454004,0.001300979,0.00110546],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004439079,"about_ca_system_score_gemma":0.0004421913,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001099911,"about_ca_topic_score_gemma":0.0009336047,"domain_scores_codex":[0.9997547,0.00005443093,0.00001866122,0.00005860027,0.00003775206,0.00007580401],"domain_scores_gemma":[0.9996574,0.0001082384,0.00004537502,0.00002969612,0.0000236149,0.0001357308],"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":[0.04030078,0.001121323,0.005154918,0.0002172277,0.0001242594,0.002954731,0.00005750803,0.0002850686,0.9287256,0.001178902,0.00216851,0.01771135],"study_design_scores_gemma":[0.003684212,0.01629677,0.1928442,0.0002066736,0.0007243703,0.03100546,0.0002265093,0.004899393,0.7313392,0.003024257,0.01567611,0.00007283057],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.9847652,0.001829051,0.001701371,0.00112325,0.0003800511,0.00008975661,0.0006110304,0.0001825295,0.009317861],"genre_scores_gemma":[0.9954005,0.0002022524,0.0005417997,0.0002631043,0.00007880168,0.00003897899,0.0002913518,0.00004497167,0.003138352],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.01600552,"threshold_uncertainty_score":0.05354381,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004780413042869862,"score_gpt":0.2460606071857856,"score_spread":0.2412801941429157,"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."}}