present in Gene: AGL
present in Chromosome: 1
Position on Chromosome: 99851059
Alleles of this Variant: GA/-
rs113994127 in
AGL gene and
Glycogen Storage Disease IIIB
PMID 8755644 1996 Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
PMID 20490926 2010 Glycogen storage disease type III in the Irish population.
PMID 20648714 2010 Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
PMID 20526204 2010 Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.
rs113994127 in
AGL gene and
Glycogen Storage Disease Type III
PMID 20071996 2010 The electrodiagnostic characteristics of Glycogen Storage Disease Type III.
PMID 8755644 1996 Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
PMID 20648714 2010 Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
PMID 20490926 2010 Glycogen storage disease type III in the Irish population.