|
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 |
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 |
GeneticVariation
|
UNIPROT |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
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 |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
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
|
UNIPROT |
EFNS guidelines on diagnosis and treatment of primary dystonias.
|
20482602 |
2011 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
|
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 |
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 |
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
|
16283883 |
2005 |
|
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 |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A study of Wilson disease mutations in Britain.
|
10502777 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
|
10544227 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
|
9482578 |
1998 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
|
9452121 |
1998 |
|
Hepatolenticular Degeneration
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |