Condition: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
rs1057519313
in
SLC6A9
gene and
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
PMID 27481395
2016 Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
PMID 27773429
2016 Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.