The association between PUS1 (Pseudouridine Synthase 1) and Myopathy, Lactic Acidosis, And Sideroblastic Anemia is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.
Sources1
Clinical variants14
Symptoms0
Compounds0
Trials0
Publications0
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.