{"id":"W1966156167","doi":"10.3899/jrheum.131168","title":"New Mutation Affecting Hypoxanthine Phosphoribosyltransferase Responsible for Severe Tophaceous Gout","year":2014,"lang":"en","type":"letter","venue":"The Journal of Rheumatology","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Assistance publique-Hôpitaux de Paris; Université Paris Descartes; Sanofi","keywords":"Hypoxanthine-guanine phosphoribosyltransferase; Gout; Medicine; Hyperuricemia; Lesch–Nyhan syndrome; Phosphoribosyltransferase; Uric acid; Hypoxanthine Phosphoribosyltransferase; Internal medicine; Hypoxanthine; Immunology; Genetics; Biology; Gene; Biochemistry; Enzyme","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008732096,0.001714906,0.001954036,0.0009487912,0.001227783,0.001126944,0.002398387,0.009231573,0.00353212],"category_scores_gemma":[0.004287691,0.0005661797,0.001159226,0.0007438677,0.001118223,0.001975891,0.0009086563,0.006010947,0.001370769],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009618643,"about_ca_system_score_gemma":0.0004100286,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001313536,"about_ca_topic_score_gemma":0.001634263,"domain_scores_codex":[0.9990411,0.0001349999,0.0001788823,0.0002601547,0.0001491576,0.0002356981],"domain_scores_gemma":[0.9974332,0.001181809,0.0002749427,0.00008140889,0.0004855362,0.0005432021],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004097262,0.000134116,0.004523725,0.0006479866,0.0001826042,0.872292,0.0005238859,0.0002080485,0.003868126,0.001189961,0.1037763,0.0122435],"study_design_scores_gemma":[0.0003527183,0.000446812,0.01221889,0.0005271724,0.0004700147,0.8431973,0.000571792,0.003189638,0.002805908,0.002777001,0.1332528,0.0001900946],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.2044047,0.05498263,0.009257012,0.4832462,0.2319573,0.0003306005,0.001227541,0.0008301949,0.01376394],"genre_scores_gemma":[0.5213327,0.01827702,0.005447814,0.1515297,0.2860883,0.0001250285,0.0005419463,0.0003345592,0.01632288],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.009231573,"threshold_uncertainty_score":0.01181608,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01303214686162429,"score_gpt":0.2708082678015956,"score_spread":0.2577761209399713,"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."}}