{"id":"W4401689253","doi":"10.1002/jmd2.12442","title":"Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous <scp>P341L <i>GATM</i></scp> variant and study of organoids towards treatment","year":2024,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Cancer Institute; National Institutes of Health","keywords":"Organoid; Genetics; Medicine; Molecular biology; Biology; Chemistry","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":[0.0001226956,0.0004654093,0.0003432707,0.0005549525,0.0003597728,0.0002537271,0.000156806,0.0004685053,0.0009571188],"category_scores_gemma":[0.0004127667,0.000185852,0.0001704426,0.0002871882,0.0002293462,0.0001407488,0.000146442,0.0003231933,0.0001816795],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002212583,"about_ca_system_score_gemma":0.0001141879,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001175743,"about_ca_topic_score_gemma":0.0007450695,"domain_scores_codex":[0.9998771,0.00002535502,0.0000143491,0.00004213947,0.00002490942,0.00001617301],"domain_scores_gemma":[0.9998481,0.00004052477,0.00002818297,0.00001073885,0.00002269583,0.00004984123],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.005570446,0.0002334088,0.1976957,0.0002084138,0.0001868685,0.0451687,0.001815787,0.0003091546,0.7336659,0.0001174287,0.0004305306,0.01459752],"study_design_scores_gemma":[0.0002670929,0.005878202,0.7287125,0.00004612828,0.0003724638,0.08789195,0.001103209,0.001987253,0.1687701,0.0003207698,0.004590598,0.00005972427],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989223,0.0004174682,0.0002185072,0.0000347247,0.000005973885,0.000006597616,0.00009089029,0.000018853,0.0002846932],"genre_scores_gemma":[0.9994069,0.00008868882,0.0001807039,0.00003040728,0.000004284004,0.000004142706,0.0001071933,0.000004815817,0.0001729236],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001175743,"threshold_uncertainty_score":0.003201902,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004894204478372891,"score_gpt":0.2190324517107212,"score_spread":0.2141382472323483,"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."}}