rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease.
|
28507268 |
2017 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
|
26886200 |
2016 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
A novel mouse model that recapitulates adult-onset glycogenosis type 4.
|
26385640 |
2015 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
|
26199317 |
2015 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
|
26199317 |
2015 |
rs137852888
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene.
|
26166723 |
2016 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.
|
26166723 |
2016 |
rs886058900
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.
|
25728520 |
2015 |
rs137852886
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.
|
25489661 |
2017 |
rs201958741
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Branching enzyme deficiency: expanding the clinical spectrum.
|
24248152 |
2014 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
|
23218673 |
2013 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
|
23034915 |
2012 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
|
23034915 |
2012 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
|
23034915 |
2012 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Progress and problems in muscle glycogenoses.
|
22106711 |
2011 |
rs1057517315
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.
|
21917543 |
2012 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways.
|
20655781 |
2011 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
|
20058079 |
2010 |
rs886058900
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
|
20058079 |
2010 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
|
19813197 |
2010 |
rs766935302
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.
|
19438752 |
2009 |
rs886058900
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
|
17994551 |
2008 |