Variant: rs143137713 

    present in Gene: GYG1
    present in Chromosome: 3
    Position on Chromosome: 148996462
    Alleles of this Variant: G/C

rs143137713 in GYG1 gene and GLYCOGEN STORAGE DISEASE XV PMID 25272951 2014 A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

PMID 27718144 2017 Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

rs143137713 in GYG1 gene and POLYGLUCOSAN BODY MYOPATHY 2 PMID 25272951 2014 A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

PMID 27718144 2017 Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.