Variant: rs767095759 

    present in Gene: PFKM
    present in Chromosome: 12
    Position on Chromosome: 48145039
    Alleles of this Variant: C/-

rs767095759 in PFKM gene and Glycogen Storage Disease PMID 8880699 1996 Muscle phosphofructokinase deficiency in two generations.

PMID 9389749 1997 Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.

PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

rs767095759 in PFKM gene and Glycogen Storage Disease Type VII PMID 8880699 1996 Muscle phosphofructokinase deficiency in two generations.

PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.