{"id":"W2521915102","doi":"10.1159/000449296","title":"Lesch-Nyhan Syndrome: Models, Theories, and Therapies","year":2016,"lang":"en","type":"review","venue":"Molecular Syndromology","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Douglas Mental Health University Institute","funders":"","keywords":"Lesch–Nyhan syndrome; Dystonia; Hypoxanthine-guanine phosphoribosyltransferase; Phenotype; Medicine; Disease; Induced pluripotent stem cell; Genome editing; Bioinformatics; Neuroscience; CRISPR; Intellectual disability; Genetics; Biology; Psychiatry; Gene; Pathology","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":[0.0005285907,0.001032583,0.00162168,0.002619734,0.0003732213,0.001320132,0.001355117,0.001287142,0.003385197],"category_scores_gemma":[0.0005010546,0.0002977083,0.0005308462,0.001504423,0.0007550249,0.001909429,0.0008992793,0.00243079,0.002160044],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008299609,"about_ca_system_score_gemma":0.0008393403,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006825546,"about_ca_topic_score_gemma":0.001224703,"domain_scores_codex":[0.9998586,0.00002557467,0.00002172204,0.00002532521,0.00005339682,0.00001533077],"domain_scores_gemma":[0.9998187,0.00007850158,0.00002575459,0.000007993351,0.00004022429,0.00002889937],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009419616,0.0001200432,0.0002466364,0.01837743,0.0001164891,0.0008749234,0.00009239461,0.0006046335,0.002928505,0.0176494,0.0406431,0.9182522],"study_design_scores_gemma":[0.0000190084,0.00005650434,0.0003637999,0.003401579,0.00009163918,0.002723912,0.00007489428,0.0001073958,0.0005195609,0.007383157,0.9852335,0.00002490174],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00009097,0.9983957,0.0001716536,0.00032662,0.0001449289,0.000003931435,0.00001584246,0.000008806,0.0008415247],"genre_scores_gemma":[0.0005216972,0.9985484,0.0002132816,0.0001342607,0.0001231442,0.00000821571,0.00002308437,0.000001664268,0.0004261193],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003385197,"threshold_uncertainty_score":0.01132458,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02303000721449033,"score_gpt":0.3043770206604419,"score_spread":0.2813470134459515,"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."}}