|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
|
18425781 |
2008 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
|
17643989 |
2007 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The emerging phenotype of long-term survivors with infantile Pompe disease.
|
22538254 |
2012 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
|
11071489 |
2000 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
|
1684505 |
1991 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New GAA mutations in Japanese patients with GSDII (Pompe disease).
|
14643388 |
2003 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
rs368438393
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
|
17616415 |
2007 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
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 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
GeneticVariation
|
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 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
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 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
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 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
|
10737124 |
1998 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
|
rs368438393
|
|
Glycogen storage disease type II
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
|
12897283 |
2003 |
|
rs368438393
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
|
24715333 |
2015 |
|
rs368438393
|
|
Glycogen storage disease type II
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
|
19862843 |
2009 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
|
15145338 |
2004 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
|
20830524 |
2010 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
|
17723315 |
2007 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
|
7695647 |
1995 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
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 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
|
20830524 |
2010 |