|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
|
30232804 |
2019 |
|
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 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
|
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 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
|
24253677 |
2014 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
|
23843956 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.800 |
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 |
|
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 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
|
22484412 |
2012 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Diverse functional properties of Wilson disease ATP7B variants.
|
22240481 |
2012 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.
|
22720273 |
2012 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
|
20958917 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
|
22308153 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.
|
20967755 |
2010 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
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 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
|
17272994 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |