rs201497300
|
|
Hepatolenticular Degeneration
|
T |
0.820 |
CausalMutation
|
CLINVAR |
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
|
26799313 |
2016 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
BEFREE |
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
|
25390358 |
2014 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
rs201497300
|
|
Hepatolenticular Degeneration
|
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
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs201497300
|
|
Hepatolenticular Degeneration
|
T |
0.820 |
GeneticVariation
|
CLINVAR |
Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.
|
23789284 |
2013 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
rs201497300
|
|
Hepatolenticular Degeneration
|
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
|
|
Hepatolenticular Degeneration
|
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
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
rs201497300
|
|
Hepatolenticular Degeneration
|
T |
0.820 |
GeneticVariation
|
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
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
rs201497300
|
|
Hepatolenticular Degeneration
|
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
|
|
Hepatolenticular Degeneration
|
T |
0.820 |
GeneticVariation
|
CLINVAR |
Clinical presentation and mutations in Danish patients with Wilson disease.
|
21610751 |
2011 |
rs201497300
|
|
Hepatolenticular Degeneration
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Clinical presentation and mutations in Danish patients with Wilson disease.
|
21610751 |
2011 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
rs201497300
|
|
Hepatolenticular Degeneration
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
rs201497300
|
|
Hepatolenticular Degeneration
|
T |
0.820 |
GeneticVariation
|
CLINVAR |
Three mutations, Q1256R, A1003T and I1102T, were characterized in WD patients, using SSCP and DNA sequencing.
|
16684691 |
2006 |
rs201497300
|
|
Hepatolenticular Degeneration
|
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
|
|
Hepatolenticular Degeneration
|
T |
0.820 |
GeneticVariation
|
CLINVAR |
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
|
15811015 |
2005 |
rs201497300
|
|
Hepatolenticular Degeneration
|
T |
0.820 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
|
16207219 |
2005 |