rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Clinical features and outcome in patients with osseomuscular type of Wilson's disease.
|
28212618 |
2017 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
A special case of recurrent gross hematuria: Answers.
|
26650869 |
2017 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
|
27982432 |
2017 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Mutational analysis of ATP7B in Chinese Wilson disease patients.
|
27398169 |
2016 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
|
26483271 |
2016 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
|
27022412 |
2016 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
|
26782526 |
2015 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
|
24094725 |
2014 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.
|
24475083 |
2014 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
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 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
|
21645214 |
2011 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
|
17919502 |
2007 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
|
17587212 |
2007 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
rs541208827
|
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
rs541208827
|
|
Hepatolenticular Degeneration
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
|
14966923 |
2004 |