|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
|
28430823 |
2017 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
|
28377241 |
2017 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
|
28082092 |
2017 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.
|
27554049 |
2017 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
|
27931613 |
2016 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
|
27595546 |
2016 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
|
23109060 |
2013 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
|
22437327 |
2012 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).
|
20821055 |
2010 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
|
20031620 |
2009 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
|
19621417 |
2009 |
|
rs199473684
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
|
11828341 |
2002 |