Condition: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4
rs879255648
in
SEC61A1
gene and
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4
PMID 27392076
2016 Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.