rs577915581
|
|
|
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 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
|
16782080 |
2006 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
|
8834250 |
1996 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
|
10737124 |
1998 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
|
24513544 |
2014 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
|
9521422 |
1998 |
rs577915581
|
|
|
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 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
|
7695647 |
1995 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
|
1684505 |
1991 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
|
18458862 |
2008 |
rs577915581
|
|
|
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 |
rs577915581
|
|
|
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 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
|
11071489 |
2000 |
rs577915581
|
|
|
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 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
|
21232767 |
2011 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
|
28196920 |
2017 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.
|
25466677 |
2015 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
|
28450385 |
2017 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
|
15668445 |
2005 |
rs577915581
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
New GAA mutations in Japanese patients with GSDII (Pompe disease).
|
14643388 |
2003 |
rs577915581
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
|
31076647 |
2019 |