Variant: rs1057517315 

    present in Gene: GBE1
    present in Chromosome: 3
    Position on Chromosome: 81705469
    Alleles of this Variant: T/-

rs1057517315 in GBE1 gene and GSD IV, Classic Hepatic PMID 12913206 2003 A neonatal form of glycogen storage disease type IV.

PMID 21917543 2012 Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

rs1057517315 in GBE1 gene and Glycogen Storage Disease Type IV PMID 12913206 2003 A neonatal form of glycogen storage disease type IV.

PMID 21917543 2012 Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.