{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.0003894272,0.000874798,0.0015741,0.0002194197,0.0001400767,0.00007059629,0.000855857,0.001504868,0.00007318293],"category_scores_gemma":[0.0001156271,0.0006437697,0.000621749,0.0002139659,0.0007691206,0.000007233042,0.001029678,0.0005237586,0.00009208304],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004214077,"about_ca_system_score_gemma":0.0003437826,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001531363,"about_ca_topic_score_gemma":0.00000356182,"domain_scores_codex":[0.9960139,0.0006752507,0.0006098537,0.001456246,0.0003205478,0.0009241681],"domain_scores_gemma":[0.9980323,0.00005206444,0.0002281374,0.001247029,0.000107471,0.0003330482],"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":[0.00006332908,0.0001802049,9.855352e-7,0.005367048,0.002024497,0.008366033,0.0000242541,4.499804e-7,0.007675735,0.0224614,0.001122988,0.9527131],"study_design_scores_gemma":[0.0004194465,0.0005201307,3.341093e-7,0.00159496,0.0002565544,0.0312568,0.000005715155,0.00000137471,0.0007650919,0.005959768,0.9583088,0.0009109922],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000919821,0.9920438,0.00453035,0.0001187382,0.0001811261,0.0008043055,0.00012851,0.00004606172,0.00122729],"genre_scores_gemma":[0.004182867,0.9924623,0.0003929328,0.0002064863,0.00009714875,0.0003011745,0.0004990578,0.000212101,0.001645889],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9571859,"threshold_uncertainty_score":0.9997914,"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."}}