rs1057517315
|
|
GSD IV, Classic Hepatic
|
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 |
rs1057517315
|
|
GSD IV, Classic Hepatic
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A neonatal form of glycogen storage disease type IV.
|
12913206 |
2003 |
rs137852887
|
|
GSD IV, Classic Hepatic
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs137852888
|
|
GSD IV, Classic Hepatic
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs192044702
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.
|
26166723 |
2016 |
rs192044702
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
|
23218673 |
2013 |
rs192044702
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
|
23034915 |
2012 |
rs192044702
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
|
20058079 |
2010 |
rs192044702
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
|
19813197 |
2010 |
rs192044702
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs192044702
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
|
9851430 |
1998 |
rs201958741
|
|
GSD IV, Classic Hepatic
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Branching enzyme deficiency: expanding the clinical spectrum.
|
24248152 |
2014 |
rs201958741
|
|
GSD IV, Classic Hepatic
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
|
10762170 |
2000 |
rs766935302
|
|
GSD IV, Classic Hepatic
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neuromuscular forms of glycogen branching enzyme deficiency.
|
17915577 |
2007 |
rs766935302
|
|
GSD IV, Classic Hepatic
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs766935302
|
|
GSD IV, Classic Hepatic
|
A |
0.700 |
CausalMutation
|
CLINVAR |
"Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1."
|
15520786 |
2004 |
rs80338671
|
|
GSD IV, Classic Hepatic
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs80338671
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
|
26199317 |
2015 |
rs80338671
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A novel mouse model that recapitulates adult-onset glycogenosis type 4.
|
26385640 |
2015 |
rs80338671
|
|
GSD IV, Classic Hepatic
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
|
26199317 |
2015 |
rs80338671
|
|
GSD IV, Classic Hepatic
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
|
23034915 |
2012 |
rs80338671
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways.
|
20655781 |
2011 |
rs80338671
|
|
GSD IV, Classic Hepatic
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
8613547 |
1996 |
rs80338671
|
|
GSD IV, Classic Hepatic
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
8613547 |
1996 |
rs80338672
|
|
GSD IV, Classic Hepatic
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|