present in Gene: PGM1
present in Chromosome: 1
Position on Chromosome: 63629521
Alleles of this Variant: A/G
rs121918371 in
PGM1 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 24499211 2014 Multiple phenotypes in phosphoglucomutase 1 deficiency.
PMID 22492991 2012 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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.