|
rs368438393
|
|
|
0.800 |
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 |
|
rs368438393
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
|
15145338 |
2004 |
|
rs368438393
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
|
15145338 |
2004 |
|
rs368438393
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
|
16782080 |
2006 |
|
rs368438393
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
|
8834250 |
1996 |
|
rs368438393
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
|
10737124 |
1998 |
|
rs368438393
|
|
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
|
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
|
rs368438393
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
|
17616415 |
2007 |
|
rs368438393
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
|
9521422 |
1998 |
|
rs368438393
|
|
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
|
|
A |
0.800 |
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 |
|
rs368438393
|
|
|
0.800 |
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 |
|
rs368438393
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
|
7695647 |
1995 |
|
rs368438393
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
|
7695647 |
1995 |
|
rs368438393
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
|
11071489 |
2000 |
|
rs368438393
|
|
|
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
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
|
20830524 |
2010 |
|
rs368438393
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
|
20830524 |
2010 |
|
rs368438393
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
rs368438393
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |