|
rs201497300
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
|
rs201497300
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Three mutations, Q1256R, A1003T and I1102T, were characterized in WD patients, using SSCP and DNA sequencing.
|
16684691 |
2006 |
|
rs201497300
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
|
16207219 |
2005 |
|
rs201497300
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
|
9671269 |
1998 |
|
rs201497300
|
|
T |
0.820 |
GeneticVariation |
CLINVAR |
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
|
23551039 |
2013 |
|
rs201497300
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
rs201497300
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
|
9452121 |
1998 |
|
rs201497300
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
rs201497300
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Recombinant subunit vaccines from yeast.
|
2679931 |
1989 |
|
rs201497300
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC) or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state.
|
25390358 |
2014 |
|
rs201497300
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
|
22692182 |
2012 |
|
rs201497300
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
|
26799313 |
2016 |
|
rs201497300
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Clinical presentation and mutations in Danish patients with Wilson disease.
|
21610751 |
2011 |
|
rs201497300
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
|
16791614 |
2006 |
|
rs201497300
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
|
23789284 |
2013 |
|
rs201497300
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%).
|
12885331 |
2003 |