|
Hepatolenticular Degeneration
|
|
0.810 |
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
|
|
0.810 |
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
|
|
0.810 |
GeneticVariation
|
BEFREE |
We identified 2 novel ATP7B mutations (p.Leu692Pro and p.Asn728Ser) and 3 known mutations (p.Met769fs, p.Arg778Leu and p.Val1216Met) in these Chinese WD families.
|
26253413 |
2015 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
|
24706876 |
2014 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
|
24555712 |
2014 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
|
23159873 |
2013 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
|
Hepatolenticular Degeneration
|
|
0.810 |
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 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
|
22763723 |
2012 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.810 |
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
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Diagnosis and treatment of Wilson disease: an update.
|
18506894 |
2008 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
|
18034201 |
2008 |
|
Hepatolenticular Degeneration
|
|
0.810 |
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
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
|
17876883 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
|
17587212 |
2007 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
|
15967699 |
2006 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
|
15952988 |
2005 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
|
14966923 |
2004 |
|
Hepatolenticular Degeneration
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |