|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
|
10737124 |
1998 |
|
rs28940868
|
|
Glycogen storage disease type II
|
A |
0.810 |
CausalMutation
|
CLINVAR |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
|
15145338 |
2004 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
|
8834250 |
1996 |
|
rs28940868
|
|
Glycogen storage disease type II
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
|
21232767 |
2011 |
|
rs28940868
|
|
Glycogen storage disease type II
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
|
28394184 |
2017 |
|
rs28940868
|
|
Glycogen storage disease type II
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
|
10338092 |
1999 |
|
rs28940868
|
|
Glycogen storage disease type II
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
|
9535769 |
1998 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
New GAA mutations in Japanese patients with GSDII (Pompe disease).
|
14643388 |
2003 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
|
14695532 |
2004 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
|
16782080 |
2006 |
|
rs28940868
|
|
Glycogen storage disease type II
|
A |
0.810 |
CausalMutation
|
CLINVAR |
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
|
8094613 |
1993 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
|
17643989 |
2007 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
|
14972326 |
2004 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
|
7695647 |
1995 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
|
8401535 |
1993 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two clinical forms of glycogen-storage disease type II in two generations of the same family.
|
16433701 |
2006 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
|
9521422 |
1998 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
|
12923862 |
2003 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
|
11738358 |
2002 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs28940868
|
|
Glycogen storage disease type II
|
A |
0.810 |
CausalMutation
|
CLINVAR |
p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.
|
21039225 |
2010 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
|
15668445 |
2005 |
|
rs28940868
|
|
Glycogen storage disease type II
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.
|
9554747 |
1998 |