Condition: Leukoencephalopathy, Cystic, Without Megalencephaly
rs121918137
in
RNASET2
gene and
Leukoencephalopathy, Cystic, Without Megalencephaly
PMID 21199949
2011 rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.
PMID 19525954
2009 RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.