rs148092995
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs148092995
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
|
26462614 |
2016 |
rs148092995
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
|
14517960 |
2003 |
rs148092995
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
|
28762252 |
2017 |
rs148092995
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
|
25965562 |
2015 |
rs199476359
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs199476366
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs199476366
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
|
25965562 |
2015 |
rs199476366
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
|
9090526 |
1997 |
rs199476366
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
|
26462614 |
2016 |
rs199476366
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.
|
22993277 |
2012 |
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of seven novel mutations associated with metachromatic leukodystrophy.
|
7581401 |
1995 |
rs199476382
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.
|
18786133 |
2008 |
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Understanding mutations and protein stability through tripeptides.
|
16546179 |
2006 |
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
|
28667691 |
2017 |
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
|
21167507 |
2011 |
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
|
8101038 |
1993 |
rs74315459
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
|
15326627 |
2004 |
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
|
15720392 |
2005 |
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
|
24001781 |
2013 |
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
|
26462614 |
2016 |
rs74315471
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Understanding mutations and protein stability through tripeptides.
|
16546179 |
2006 |
rs74315471
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
|
21167507 |
2011 |