Variant: rs1320810473 

    present in Gene: PGM1;ITGB3BP
    present in Chromosome: 1
    Position on Chromosome: 63593543
    Alleles of this Variant: A/G

rs1320810473 in PGM1;ITGB3BP gene and Glycogen Storage Disease XIV PMID 25288802 2014 Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.

PMID 22492991 2012 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

PMID 24499211 2014 Multiple phenotypes in phosphoglucomutase 1 deficiency.

PMID 19625727 2009 Muscle glycogenosis due to phosphoglucomutase 1 deficiency.

PMID 26972339 2016 Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.

PMID 22976764 2013 A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.