Variant: rs121918193 

    present in Gene: PFKM
    present in Chromosome: 12
    Position on Chromosome: 48130393
    Alleles of this Variant: G/A;C;T

rs121918193 in PFKM gene and Glycogen Storage Disease Type VII PMID 7825568 1995 Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

PMID 8889589 1996 Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.

PMID 22133655 2012 Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

PMID 24427140 2013 First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.

PMID 7513946 1994 Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.