rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
|
2152885 |
1990 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.
|
23537685 |
2013 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
rs104894827
|
|
|
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 |
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
|
22773828 |
2012 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
|
11295840 |
2001 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
|
11076046 |
2000 |
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 |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
|
1846223 |
1991 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |