https://pubmed.ncbi.nlm.nih.gov/22132964/
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2)
Renal hypouricemia (MIM 220150) is an inherited disorder characterized by low serum uric acid levels and has severe complications such as exercise-induced...
pathogenicmutationscausingrenalhypouricemia