rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.
|
23537685 |
2013 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
|
20031620 |
2009 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Fabry disease: a new approach for the screening of females in high-risk groups.
|
24582695 |
2014 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
New mutations in the GLA gene in Brazilian families with Fabry disease.
|
22551898 |
2012 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
|
22773828 |
2012 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease.
|
24334114 |
2014 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
|
17555407 |
2007 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
|
25382311 |
2015 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
|
20505683 |
2010 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Pharmacological chaperone therapy for Fabry disease.
|
22241068 |
2012 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
|
25382311 |
2015 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.
|
9395081 |
1997 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
|
15702404 |
2005 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
|
10916280 |
2000 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
|
27560961 |
2016 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |
rs104894828
|
|
T |
0.840 |
CausalMutation |
CLINVAR |
A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.
|
11688386 |
2001 |