rs121907936
|
|
C |
0.810 |
GeneticVariation |
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
rs121907936
|
|
C |
0.810 |
GeneticVariation |
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |
rs28940868
|
|
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 |
rs776948121
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Novel GAA mutations in patients with Pompe disease.
|
25681614 |
2015 |
rs121907936
|
|
|
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
|
|
|
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 |
rs757700700
|
|
|
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 |
rs757700700
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.
|
25026126 |
2014 |
rs776948121
|
|
|
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 |
rs757700700
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.
|
23632174 |
2013 |
rs757700700
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.
|
23632174 |
2013 |
rs757700700
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
|
22081099 |
2012 |
rs776948121
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
|
22658377 |
2012 |
rs121907936
|
|
C |
0.810 |
GeneticVariation |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
rs28940868
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
|
21232767 |
2011 |
rs121907936
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
rs28940868
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
rs28940868
|
|
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 |
rs121907936
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
|
19588081 |
2009 |
rs28940868
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
|
19588081 |
2009 |
rs757700700
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
|
19862843 |
2009 |
rs776948121
|
|
G |
0.810 |
GeneticVariation |
CLINVAR |
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
|
19588081 |
2009 |
rs776948121
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
|
19588081 |
2009 |
rs121907936
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
rs121907936
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
|
18425781 |
2008 |