rs128624223
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
|
26686776 |
2016 |
rs398123102
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
|
26686776 |
2016 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
|
26686776 |
2016 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
|
24719134 |
2014 |
rs128624223
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
|
23651979 |
2013 |
rs398123102
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
|
23651979 |
2013 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
|
23651979 |
2013 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
|
23566833 |
2013 |
rs128624223
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
rs128624223
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
rs398123102
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
rs398123102
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
rs128624223
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
|
21889498 |
2011 |
rs398123102
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
|
21889498 |
2011 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
|
21889498 |
2011 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
|
20661612 |
2011 |
rs128624223
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
|
15643618 |
2005 |
rs398123102
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
|
15643618 |
2005 |
rs398123102
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
|
15811009 |
2005 |
rs398123105
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
|
15643618 |
2005 |
rs128624223
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
|
11438993 |
2001 |
rs128624223
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.
|
11248239 |
2001 |