{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009943832,0.0002884324,0.0005312574,0.0001010759,0.0001289332,0.00002911954,0.0006505115,0.0009115475,0.00003568415],"category_scores_gemma":[0.0007861739,0.0001995014,0.000346373,0.00008898372,0.0001161078,0.000003920806,0.00008668603,0.001164645,0.000009014742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002794743,"about_ca_system_score_gemma":0.0005280203,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001106609,"about_ca_topic_score_gemma":0.0000281701,"domain_scores_codex":[0.9979981,0.0004335243,0.000563878,0.0002548999,0.0002915081,0.0004580936],"domain_scores_gemma":[0.9982818,0.0004556233,0.00042977,0.0004023416,0.0003217307,0.0001087706],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001299461,0.00001706508,0.00006260856,0.0001915568,0.000294237,0.00004962146,0.00007006762,0.00002619413,0.1144585,0.00001622119,0.8808767,0.002637821],"study_design_scores_gemma":[0.002107144,0.001653523,0.000006991288,0.0001765422,0.000216972,0.02117637,0.00003999031,0.00002555992,0.285215,0.001095865,0.6879069,0.0003791492],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.4198489,0.00800545,0.08135121,0.4881737,0.00136783,0.0009619365,0.00004671586,0.0000196546,0.0002245461],"genre_scores_gemma":[0.6403257,0.006327556,0.01418834,0.3222378,0.004480928,0.00004952461,0.001057441,0.0004957193,0.01083698],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.2204768,"threshold_uncertainty_score":0.813543,"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."}}