Variant: rs121918419 

    present in Gene: GYS2
    present in Chromosome: 12
    Position on Chromosome: 21568952
    Alleles of this Variant: G/A

rs121918419 in GYS2 gene and Glycogen Storage Disease PMID 20051115 2010 A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.

PMID 9691087 1998 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

rs121918419 in GYS2 gene and Glycogen Storage Disease 0, Liver PMID 20051115 2010 A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.

PMID 25070466 2015 Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

PMID 12072888 2002 Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.

PMID 28245189 2017 The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.

PMID 9691087 1998 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.