|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
|
30232804 |
2019 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical features and outcome in patients with osseomuscular type of Wilson's disease.
|
28212618 |
2017 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
|
27022412 |
2016 |
|
Hepatolenticular Degeneration
|
|
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 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.
|
27930511 |
2016 |
|
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 |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
|
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 |
CausalMutation
|
CLINVAR |
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
|
23333878 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
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 |
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 |
GeneticVariation
|
CLINVAR |
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
|
21645214 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
|
18728530 |
2008 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
|
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 |
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
|
17587212 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.800 |
CausalMutation
|
CLINVAR |
Wilson's disease: a patient undiagnosed for 18 years.
|
16603785 |
2006 |
|
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
|
CLINVAR |
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
|
16868807 |
2006 |