rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV.
|
8613547 |
1996 |
rs80338671
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV.
|
8613547 |
1996 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
|
26199317 |
2015 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
|
9851430 |
1998 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV.
|
8613547 |
1996 |
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 |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
|
23034915 |
2012 |
rs80338671
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs80338672
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80338673
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886058900
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.
|
25728520 |
2015 |
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 |
rs886058900
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
|
20058079 |
2010 |